{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:53:34Z","timestamp":1790967214905,"version":"4.1.0"},"reference-count":86,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":854,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1002\/humu.22315","type":"journal-article","created":{"date-parts":[[2013,3,17]],"date-time":"2013-03-17T02:16:22Z","timestamp":1363486582000},"page":"827-835","source":"Crossref","is-referenced-by-count":120,"title":["DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics"],"prefix":"10.1155","volume":"34","author":[{"given":"Dimitre R.","family":"Simeonov","sequence":"first","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinjing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Sergeev","sequence":"additional","affiliation":[{"name":"National Eye Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Dolinska","sequence":"additional","affiliation":[{"name":"National Eye Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Bower","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism; University of Minnesota Medical Center; Fairview; Minneapolis; Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxanne","family":"Fischer","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Winer","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genia","family":"Dubrovsky","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan Z.","family":"Balog","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Hart","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih M.","family":"Zein","sequence":"additional","affiliation":[{"name":"National Eye Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Adams","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute; National Institutes of Health; Bethesda; Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2013,4,30]]},"reference":[{"key":"10.1002\/humu.22315-BIB0001|humu22315-cit-0001","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1002\/humu.22315-BIB0002|humu22315-cit-0002","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1046\/j.0022-202x.2001.01397.x","article-title":"Melanosomal pH, pink locus protein and their roles in melanogenesis","volume":"117","author":"Ancans","year":"2001a","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22315-BIB0003|humu22315-cit-0003","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1006\/excr.2001.5251","article-title":"Melanosomal pH controls rate of melanogenesis, eumelanin\/phaeomelanin ratio and melanosome maturation in melanocytes and melanoma cells","volume":"268","author":"Ancans","year":"2001b","journal-title":"Exp Cell Res"},{"key":"10.1002\/humu.22315-BIB0004|humu22315-cit-0004","doi-asserted-by":"crossref","first-page":"12281","DOI":"10.1074\/jbc.275.16.12281","article-title":"A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature","volume":"275","author":"Berson","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22315-BIB0005|humu22315-cit-0005","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1196\/annals.1315.018","article-title":"Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome","volume":"1038","author":"Bonifacino","year":"2004","journal-title":"Ann N Y Acad Sci"},{"key":"10.1002\/humu.22315-BIB0006|humu22315-cit-0006","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1046\/j.0022-202x.2001.01462.x","article-title":"Melanosomal pH, pink locus protein and their roles in melanogenesis","volume":"117","author":"Brilliant","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22315-BIB0007|humu22315-cit-0007","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF00355717","article-title":"The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito","volume":"3","author":"Brilliant","year":"1992","journal-title":"Mamm Genome"},{"key":"10.1002\/humu.22315-BIB0008|humu22315-cit-0008","doi-asserted-by":"crossref","first-page":"3823","DOI":"10.1093\/nar\/gkm238","article-title":"SNAP: predict effect of non-synonymous polymorphisms on function","volume":"35","author":"Bromberg","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22315-BIB0009|humu22315-cit-0009","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1111\/j.1469-1809.2006.00247.x","article-title":"OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene","volume":"70","author":"Chaki","year":"2006","journal-title":"Ann Hum Genet"},{"key":"10.1002\/humu.22315-BIB0010|humu22315-cit-0010","doi-asserted-by":"crossref","first-page":"2968","DOI":"10.1002\/ajmg.a.32539","article-title":"A new hypothesis of OCA1B","volume":"146A","author":"Chiang","year":"2008a","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22315-BIB0011|humu22315-cit-0011","doi-asserted-by":"crossref","first-page":"2427","DOI":"10.1002\/ajmg.a.32453","article-title":"Synergistic interaction of the OCA2 and OCA3 genes in a family","volume":"146A","author":"Chiang","year":"2008b","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22315-BIB0012|humu22315-cit-0012","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1002\/ajmg.a.32939","article-title":"Oculocutaneous albinism spectrum","volume":"149A","author":"Chiang","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22315-BIB0013|humu22315-cit-0013","doi-asserted-by":"crossref","first-page":"3203","DOI":"10.1242\/jcs.00598","article-title":"Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4","volume":"116","author":"Costin","year":"2003","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.22315-BIB0014|humu22315-cit-0014","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1136\/jmg.38.1.35","article-title":"Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion","volume":"38","author":"Coupry","year":"2001","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22315-BIB0015|humu22315-cit-0015","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1038\/jid.2011.157","article-title":"Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia","volume":"131","author":"Cullinane","year":"2011","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22315-BIB0016|humu22315-cit-0016","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/0014-5793(96)00109-3","article-title":"Tyrosinase and related proteins in mammalian pigmentation","volume":"381","author":"del Marmol","year":"1996","journal-title":"FEBS Lett"},{"key":"10.1002\/humu.22315-BIB0017|humu22315-cit-0017","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/978-1-61779-767-5_2","article-title":"Bioinformatics and mutations leading to exon skipping","volume":"867","author":"Desmet","year":"2012","journal-title":"Methods Mol Biol"},{"key":"10.1002\/humu.22315-BIB0018|humu22315-cit-0018","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1111\/j.1600-0625.2009.00896.x","article-title":"A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes","volume":"18","author":"Dessinioti","year":"2009","journal-title":"Exp Dermatol"},{"key":"10.1002\/humu.22315-BIB0019|humu22315-cit-0019","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1111\/j.1600-0854.2011.01300.x","article-title":"The enlarged lysosomes in beige j cells result from decreased lysosome fission and not increased lysosome fusion","volume":"13","author":"Durchfort","year":"2012","journal-title":"Traffic"},{"key":"10.1002\/humu.22315-BIB0020|humu22315-cit-0020","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/ng0694-176","article-title":"African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism","volume":"7","author":"Durham-Pierre","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22315-BIB0021|humu22315-cit-0021","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/ajmg.a.20105","article-title":"Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene","volume":"119A","author":"Fridman","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22315-BIB0022|humu22315-cit-0022","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/ng0195-92","article-title":"Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism","volume":"9","author":"Fukai","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22315-BIB0023|humu22315-cit-0023","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1111\/j.1600-0749.1995.tb00668.x","article-title":"Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes","volume":"8","author":"Gahl","year":"1995","journal-title":"Pigment Cell Res"},{"key":"10.1002\/humu.22315-BIB0024|humu22315-cit-0024","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1167\/iovs.10-6091","article-title":"Molecular and clinical characterization of albinism in a large cohort of Italian patients","volume":"52","author":"Gargiulo","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.22315-BIB0025|humu22315-cit-0025","volume-title":"Inborn errors of metabolism","author":"Garrod","year":"1923"},{"key":"10.1002\/humu.22315-BIB0026|humu22315-cit-0026","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gronskov","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"10.1002\/humu.22315-BIB0027|humu22315-cit-0027","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1167\/iovs.08-2639","article-title":"Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism","volume":"50","author":"Gronskov","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.22315-BIB0028|humu22315-cit-0028","doi-asserted-by":"crossref","first-page":"5889","DOI":"10.1073\/pnas.97.11.5889","article-title":"Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism","volume":"97","author":"Halaban","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22315-BIB0029|humu22315-cit-0029","volume-title":"NHLBI GO Exome Sequencing Project (ESP)","author":"Exome Variant Server","year":"2012"},{"key":"10.1002\/humu.22315-BIB0030|humu22315-cit-0030","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1038\/jid.2008.109","article-title":"Comprehensive analysis of oculocutaneous albinism among non-Hispanic Caucasians shows that OCA1 is the most prevalent OCA type","volume":"128","author":"Hutton","year":"2008a","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22315-BIB0031|humu22315-cit-0031","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1167\/iovs.07-0791","article-title":"A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients","volume":"49","author":"Hutton","year":"2008b","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.22315-BIB0032|humu22315-cit-0032","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1023\/A:1006981411691","article-title":"Mutational analysis of Raf-1 cysteine rich domain: requirement for a cluster of basic aminoacids for interaction with phosphatidylserine","volume":"198","author":"Improta-Brears","year":"1999","journal-title":"Mol Cell Biochem"},{"key":"10.1002\/humu.22315-BIB0033|humu22315-cit-0033","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1086\/382195","article-title":"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan","volume":"74","author":"Inagaki","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22315-BIB0034|humu22315-cit-0034","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nprot.2009.2","article-title":"Protein structure prediction on the Web: a case study using the Phyre server","volume":"4","author":"Kelley","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1002\/humu.22315-BIB0035|humu22315-cit-0035","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1007\/s00439-003-0998-1","article-title":"Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype","volume":"113","author":"King","year":"2003","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22315-BIB0036|humu22315-cit-0036","doi-asserted-by":"crossref","first-page":"4261","DOI":"10.1242\/jcs.017913","article-title":"Direct interaction of tyrosinase with Tyrp1 to form heterodimeric complexes in vivo","volume":"120","author":"Kobayashi","year":"2007","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.22315-BIB0037|humu22315-cit-0037","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/prot.10104","article-title":"Increasing the precision of comparative models with YASARANOVA-a self-parameterizing force field","volume":"47","author":"Krieger","year":"2002","journal-title":"Proteins"},{"key":"10.1002\/humu.22315-BIB0038|humu22315-cit-0038","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1002\/humu.22315-BIB0039|humu22315-cit-0039","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1126\/science.1116238","article-title":"SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans","volume":"310","author":"Lamason","year":"2005","journal-title":"Science"},{"key":"10.1002\/humu.22315-BIB0040|humu22315-cit-0040","doi-asserted-by":"crossref","DOI":"10.1038\/gim.2012.58","article-title":"Diagnostic approaches to apparent homozygosity","author":"Landsverk","year":"2012","journal-title":"Genet Med"},{"key":"10.1002\/humu.22315-BIB0041|humu22315-cit-0041","doi-asserted-by":"crossref","first-page":"e236","DOI":"10.1371\/journal.pbio.0060236","article-title":"L-DOPA is an endogenous ligand for OA1","volume":"6","author":"Lopez","year":"2008","journal-title":"PLoS Biol"},{"key":"10.1002\/humu.22315-BIB0042|humu22315-cit-0042","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1111\/j.1755-148X.2011.00884.x","article-title":"UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome","volume":"24","author":"Low","year":"2011","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1002\/humu.22315-BIB0043|humu22315-cit-0043","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1186\/1471-2458-8-225","article-title":"Lack of adequate sun protection for children with oculocutaneous albinism in South Africa","volume":"8","author":"Lund","year":"2008","journal-title":"BMC Public Health"},{"key":"10.1002\/humu.22315-BIB0044|humu22315-cit-0044","doi-asserted-by":"crossref","first-page":"1984","DOI":"10.1242\/jcs.082024","article-title":"Identification of an animal sucrose transporter","volume":"124","author":"Meyer","year":"2011","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.22315-BIB0045|humu22315-cit-0045","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1086\/324340","article-title":"Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4","volume":"69","author":"Newton","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22315-BIB0046|humu22315-cit-0046","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1034\/j.1600-0749.2000.130503.x","article-title":"The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation","volume":"13","author":"Oetting","year":"2000","journal-title":"Pigment Cell Res"},{"key":"10.1002\/humu.22315-BIB0047|humu22315-cit-0047","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1034\/j.1600-0749.2003.00045.x","article-title":"Oculocutaneous albinism type 1: the last 100 years","volume":"16","author":"Oetting","year":"2003","journal-title":"Pigment Cell Res"},{"key":"10.1002\/humu.22315-BIB0048|humu22315-cit-0048","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/ajmg.a.32654","article-title":"The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism","volume":"149A","author":"Oetting","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22315-BIB0049|humu22315-cit-0049","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1365-2133.1975.tb03116.x","article-title":"Albinism in Nigeria. A clinical and social study","volume":"92","author":"Okoro","year":"1975","journal-title":"Br J Dermatol"},{"key":"10.1002\/humu.22315-BIB0050|humu22315-cit-0050","doi-asserted-by":"crossref","first-page":"3914","DOI":"10.1172\/JCI59372","article-title":"Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism","volume":"121","author":"Onojafe","year":"2011","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.22315-BIB0051|humu22315-cit-0051","doi-asserted-by":"crossref","first-page":"16470","DOI":"10.1074\/jbc.274.23.16470","article-title":"Protein kinase C-beta activates tyrosinase by phosphorylating serine residues in its cytoplasmic domain","volume":"274","author":"Park","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22315-BIB0052|humu22315-cit-0052","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1006\/excr.1998.4173","article-title":"Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes","volume":"244","author":"Potterf","year":"1998","journal-title":"Exp Cell Res"},{"key":"10.1002\/humu.22315-BIB0053|humu22315-cit-0053","first-page":"939","article-title":"Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism","volume":"17","author":"Preising","year":"2011","journal-title":"Mol Vis"},{"key":"10.1002\/humu.22315-BIB0054|humu22315-cit-0054","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1007\/s004390050568","article-title":"Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene","volume":"100","author":"Puri","year":"1997","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22315-BIB0055|humu22315-cit-0055","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1046\/j.1523-1747.2000.00108.x","article-title":"Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes","volume":"115","author":"Puri","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22315-BIB0056|humu22315-cit-0056","first-page":"879","article-title":"The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12","volume":"51","author":"Ramsay","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22315-BIB0057|humu22315-cit-0057","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1111\/j.1755-148X.2008.00496.x","article-title":"Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects","volume":"21","author":"Rooryck","year":"2008","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1002\/humu.22315-BIB0058|humu22315-cit-0058","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s00439-010-0913-5","article-title":"High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients","volume":"129","author":"Rooryck","year":"2011","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22315-BIB0059|humu22315-cit-0059","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1159\/000337489","article-title":"The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report","volume":"3","author":"Rossi","year":"2012","journal-title":"Case Report Ophthalmol"},{"key":"10.1002\/humu.22315-BIB0060|humu22315-cit-0060","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat Protoc"},{"key":"10.1002\/humu.22315-BIB0061|humu22315-cit-0061","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1136\/jmg.37.5.392","article-title":"Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome","volume":"37","author":"Saitoh","year":"2000","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22315-BIB0062|humu22315-cit-0062","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1034\/j.1600-0749.2001.140603.x","article-title":"Tyrp1 and oculocutaneous albinism type 3","volume":"14","author":"Sarangarajan","year":"2001","journal-title":"Pigment Cell Res"},{"key":"10.1002\/humu.22315-BIB0063|humu22315-cit-0063","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1111\/1523-1747.ep12340185","article-title":"Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene","volume":"106","author":"Schnur","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22315-BIB0064|humu22315-cit-0064","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1016\/j.ophtha.2006.10.054","article-title":"Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism","volume":"114","author":"Seo","year":"2007","journal-title":"Ophthalmology"},{"key":"10.1002\/humu.22315-BIB0065|humu22315-cit-0065","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.febslet.2008.12.058","article-title":"The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision","volume":"583","author":"Silva","year":"2009","journal-title":"FEBS Lett"},{"key":"10.1002\/humu.22315-BIB0066|humu22315-cit-0066","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<57::AID-AJMG11>3.0.CO;2-U","article-title":"Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele","volume":"71","author":"Spritz","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22315-BIB0067|humu22315-cit-0067","doi-asserted-by":"crossref","first-page":"4206","DOI":"10.1091\/mbc.E02-05-0282","article-title":"Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism","volume":"13","author":"Staleva","year":"2002","journal-title":"Mol Biol Cell"},{"key":"10.1002\/humu.22315-BIB0068|humu22315-cit-0068","first-page":"586","article-title":"An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids","volume":"56","author":"Stevens","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22315-BIB0069|humu22315-cit-0069","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s004390050400","article-title":"Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation","volume":"99","author":"Stevens","year":"1997","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22315-BIB0070|humu22315-cit-0070","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1097\/OPX.0b013e3181a5254c","article-title":"Albinism: classification, clinical characteristics, and recent findings","volume":"86","author":"Summers","year":"2009","journal-title":"Optom Vis Sci"},{"key":"10.1002\/humu.22315-BIB0071|humu22315-cit-0071","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1096\/fj.01-0216com","article-title":"Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins","volume":"15","author":"Toyofuku","year":"2001","journal-title":"FASEB J"},{"key":"10.1002\/humu.22315-BIB0072|humu22315-cit-0072","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1034\/j.1600-0749.2002.02007.x","article-title":"The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase","volume":"15","author":"Toyofuku","year":"2002","journal-title":"Pigment Cell Res"},{"key":"10.1002\/humu.22315-BIB0073|humu22315-cit-0073","first-page":"103","article-title":"A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity","volume":"1","author":"Tripathi","year":"1991","journal-title":"Gene Expr"},{"key":"10.1002\/humu.22315-BIB0074|humu22315-cit-0074","doi-asserted-by":"crossref","first-page":"23707","DOI":"10.1016\/S0021-9258(18)35895-2","article-title":"Mutational mapping of the catalytic activities of human tyrosinase","volume":"267","author":"Tripathi","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22315-BIB0075|humu22315-cit-0075","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1755-148X.2008.00513.x","article-title":"Specific expression of Gsta4 in mouse cochlear melanocytes: a novel role for hearing and melanocyte differentiation","volume":"22","author":"Uehara","year":"2009","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1002\/humu.22315-BIB0076|humu22315-cit-0076","doi-asserted-by":"crossref","first-page":"e22861","DOI":"10.1371\/journal.pone.0022861","article-title":"Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion","volume":"6","author":"Vilboux","year":"2011","journal-title":"PLoS ONE"},{"key":"10.1002\/humu.22315-BIB0077|humu22315-cit-0077","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1167\/iovs.07-0458","article-title":"Identifying human albinism: a comparison of VEP and fMRI","volume":"49","author":"dem Hagen","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.22315-BIB0078|humu22315-cit-0078","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1083\/jcb.200606050","article-title":"Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes","volume":"175","author":"Wasmeier","year":"2006","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.22315-BIB0079|humu22315-cit-0079","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/jid.2009.339","article-title":"A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism","volume":"130","author":"Wei","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22315-BIB0080|humu22315-cit-0080","doi-asserted-by":"crossref","first-page":"D5","DOI":"10.1093\/nar\/gkl1031","article-title":"Database resources of the National Center for Biotechnology Information","volume":"35","author":"Wheeler","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22315-BIB0081|humu22315-cit-0081","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/bjophthalmol-2011-300072","article-title":"Refractive profile in oculocutaneous albinism and its correlation with final visual outcome","volume":"96","author":"Yahalom","year":"2012","journal-title":"Br J Ophthalmol"},{"key":"10.1002\/humu.22315-BIB0082|humu22315-cit-0082","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/biof.29","article-title":"Physiological factors that regulate skin pigmentation","volume":"35","author":"Yamaguchi","year":"2009","journal-title":"Biofactors"},{"key":"10.1002\/humu.22315-BIB0083|humu22315-cit-0083","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s10038-005-0257-5","article-title":"Molecular basis of oculocutaneous albinism type 1 in Lebanese patients","volume":"50","author":"Zahed","year":"2005","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22315-BIB0084|humu22315-cit-0084","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/978-94-007-2888-2_28","article-title":"The biology of protein kinase C","volume":"740","author":"Zeng","year":"2012","journal-title":"Adv Exp Med Biol"},{"key":"10.1002\/humu.22315-BIB0085|humu22315-cit-0085","doi-asserted-by":"crossref","first-page":"10388","DOI":"10.1073\/pnas.1205210109","article-title":"Perivascular-resident macrophage-like melanocytes in the inner ear are essential for the integrity of the intrastrial fluid-blood barrier","volume":"109","author":"Zhang","year":"2012","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22315-BIB0086|humu22315-cit-0086","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1073\/pnas.1119675109","article-title":"The mystery of missing heritability: genetic interactions create phantom heritability","volume":"109","author":"Zuk","year":"2012","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22315\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:25Z","timestamp":1672332865000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,30]]},"references-count":86,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22315","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4,30]]}}}