{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T20:10:28Z","timestamp":1772223028145,"version":"3.50.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":1523,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2011,10]]},"DOI":"10.1038\/jid.2011.157","type":"journal-article","created":{"date-parts":[[2011,6,17]],"date-time":"2011-06-17T17:02:40Z","timestamp":1308330160000},"page":"2017-2025","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":64,"title":["Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia"],"prefix":"10.1016","volume":"131","author":[{"given":"Andrew R.","family":"Cullinane","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James A.","family":"Curry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn M.","family":"Maynard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah","family":"Carlson-Donohoe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Ciccone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"NISC Comparative Sequencing Program","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas C.","family":"Markello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meral","family":"Gunay-Aygun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/jid.2011.157_bb0010","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng576","article-title":"Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico","volume":"28","author":"Anikster","year":"2001","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0015","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/nature07517","article-title":"Accurate whole human genome sequencing using reversible terminator chemistry","volume":"456","author":"Bentley","year":"2008","journal-title":"Nature"},{"key":"10.1038\/jid.2011.157_bb0020","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as \u201cOCA3\u201d","volume":"58","author":"Boissy","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.2011.157_bb0025","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1056\/NEJM198906153202402","article-title":"Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis","volume":"320","author":"Bonilla","year":"1989","journal-title":"N Engl J Med"},{"key":"10.1038\/jid.2011.157_bb0030","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1056\/NEJMoa0805051","article-title":"A syndrome with congenital neutropenia and mutations in G6PC3","volume":"360","author":"Boztug","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1038\/jid.2011.157_bb0035","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.iac.2008.01.007","article-title":"Congenital neutropenia syndromes","volume":"28","author":"Boztug","year":"2008","journal-title":"Immunol Allergy Clin North Am"},{"key":"10.1038\/jid.2011.157_bb0040","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1172\/JCI30443","article-title":"Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta","volume":"117","author":"Cheung","year":"2007","journal-title":"J Clin Invest"},{"key":"10.1038\/jid.2011.157_bb0045","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":"10.1038\/jid.2011.157_bb0050","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S1097-2765(00)80170-7","article-title":"Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor","volume":"3","author":"Dell'Angelica","year":"1999","journal-title":"Mol Cell"},{"key":"10.1038\/jid.2011.157_bb0055","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/85886","article-title":"Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia","volume":"27","author":"Devriendt","year":"2001","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0060","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nbt.1523","article-title":"Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing","volume":"27","author":"Gnirke","year":"2009","journal-title":"Nat Biotechnol"},{"key":"10.1038\/jid.2011.157_bb0065","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":"10.1038\/jid.2011.157_bb0070","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":"10.1038\/jid.2011.157_bb0075","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/70544","article-title":"Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis","volume":"23","author":"Horwitz","year":"1999","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0080","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1146\/annurev.genom.9.081307.164303","article-title":"Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics","volume":"9","author":"Huizing","year":"2008","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1038\/jid.2011.157_bb0085","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.ajhg.2010.04.007","article-title":"Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate","volume":"86","author":"Johnston","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.2011.157_bb0090","series-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","first-page":"3731","article-title":"Abnormalities of pigmentation","author":"King","year":"2002"},{"key":"10.1038\/jid.2011.157_bb0095","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/ng1940","article-title":"HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)","volume":"39","author":"Klein","year":"2007","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0100","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1126\/science.8211187","article-title":"Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a","volume":"262","author":"Lei","year":"1993","journal-title":"Science"},{"key":"10.1038\/jid.2011.157_bb0105","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/ng1229","article-title":"Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)","volume":"35","author":"Li","year":"2003","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0110","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"10.1038\/jid.2011.157_bb0115","doi-asserted-by":"crossref","first-page":"25197","DOI":"10.1074\/jbc.M101549200","article-title":"Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes","volume":"276","author":"Martin","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.2011.157_bb0120","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1086\/499338","article-title":"A germline mutation in BLOC1S3\/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)","volume":"78","author":"Morgan","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.2011.157_bb0125","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":"10.1038\/jid.2011.157_bb0130","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","article-title":"Exome sequencing identifies the cause of a mendelian disorder","volume":"42","author":"Ng","year":"2010","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0135","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature08250","article-title":"Targeted capture and massively parallel sequencing of 12 human exomes","volume":"461","author":"Ng","year":"2009","journal-title":"Nature"},{"key":"10.1038\/jid.2011.157_bb0140","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng1196-300","article-title":"Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles","volume":"14","author":"Oh","year":"1996","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0145","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1038\/ng.662","article-title":"Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy","volume":"42","author":"Otto","year":"2010","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0150","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/ng1170","article-title":"Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2","volume":"34","author":"Person","year":"2003","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0155","doi-asserted-by":"crossref","first-page":"13976","DOI":"10.1074\/jbc.M307756200","article-title":"Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP)","volume":"279","author":"Petrolonis","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.2011.157_bb0160","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1006\/jmbi.1994.1129","article-title":"Formation of two-dimensional arrays of annexin V on phosphatidylserine-containing liposomes","volume":"236","author":"Pigault","year":"1994","journal-title":"J Mol Biol"},{"key":"10.1038\/jid.2011.157_bb0165","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/361072a0","article-title":"A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism","volume":"361","author":"Rinchik","year":"1993","journal-title":"Nature"},{"key":"10.1038\/jid.2011.157_bb0170","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/humu.10311","article-title":"Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4","volume":"23","author":"Rundshagen","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1038\/jid.2011.157_bb0175","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/ng835","article-title":"Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene","volume":"30","author":"Suzuki","year":"2002","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2011.157_bb0180","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1101\/gr.106716.110","article-title":"Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing","volume":"20","author":"Teer","year":"2010","journal-title":"Genome Res"},{"key":"10.1038\/jid.2011.157_bb0185","doi-asserted-by":"crossref","first-page":"R145","DOI":"10.1093\/hmg\/ddq333","article-title":"Exome sequencing: the sweet spot before whole genomes","volume":"19","author":"Teer","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1038\/jid.2011.157_bb0190","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1016\/0006-291X(89)91767-1","article-title":"Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene","volume":"164","author":"Tomita","year":"1989","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1038\/jid.2011.157_bb0195","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":"10.1038\/jid.2011.157_bb0200","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1053\/j.seminhematol.2006.04.004","article-title":"Severe congenital neutropenia","volume":"43","author":"Welte","year":"2006","journal-title":"Semin Hematol"},{"key":"10.1038\/jid.2011.157_bb0205","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng1087","article-title":"Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6","volume":"33","author":"Zhang","year":"2003","journal-title":"Nat Genet"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X1535034X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X1535034X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T11:52:15Z","timestamp":1743940335000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X1535034X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":40,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["S0022202X1535034X"],"URL":"https:\/\/doi.org\/10.1038\/jid.2011.157","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.2011.157","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 The Society for Investigative Dermatology, Inc. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}