{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:56:22Z","timestamp":1790394982817,"version":"4.1.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1997,10,1]],"date-time":"1997-10-01T00:00:00Z","timestamp":875664000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5770,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1997,10]]},"DOI":"10.1086\/514899","type":"journal-article","created":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T19:38:45Z","timestamp":1196797125000},"page":"813-821","source":"Crossref","is-referenced-by-count":91,"title":["Mutation Profile of All 49 Exons of the Human Myosin VIIA Gene, and Haplotype Analysis, in Usher 1B Families from Diverse Origins"],"prefix":"10.1016","volume":"61","author":[{"given":"A.","family":"Adato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Weil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Kalinski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Pel-Or","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ayadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Petit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Korostishevsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Bonne-Tamir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/514899_bib1","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1006\/geno.1994.1124","article-title":"Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred","volume":"20","author":"Bonne-Tamir","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/514899_bib2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/hmg\/6.1.27","article-title":"A newly identified locus for Usher syndrome type 1, USH1E, maps to chromosome 21q21","volume":"6","author":"Chaib","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/514899_bib3","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1006\/geno.1996.0489","article-title":"Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B","volume":"36","author":"Chen","year":"1996","journal-title":"Genomics"},{"key":"10.1086\/514899_bib4","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/cm.970240402","article-title":"Phylogenetic analysis of the myosin super family","volume":"24","author":"Cheney","year":"1993","journal-title":"Cell Motil Cytoskeleton"},{"key":"10.1086\/514899_bib5","first-page":"87","article-title":"The heterogeneity of Usher syndrome. Amsterdam Excerpta Media Foundation","volume":"215","author":"Davenport","year":"1977","journal-title":"International Congress ser abstr"},{"key":"10.1086\/514899_bib6","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1093\/hmg\/5.8.1171","article-title":"Human Usher 1B\/mouse shaker-1: the retinal pheno-type discrepancy explained by the presence\/absence of myosin VIIA in the photoreceptor cells","volume":"5","author":"El-Amraoui","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/514899_bib7","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/374062a0","article-title":"A type VII myosin encoded by the mouse deafness gene shaker-1","volume":"374","author":"Gibson","year":"1995","journal-title":"Nature"},{"key":"10.1086\/514899_bib8","doi-asserted-by":"crossref","first-page":"9815","DOI":"10.1073\/pnas.92.21.9815","article-title":"Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B","volume":"92","author":"Hasson","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/514899_bib9","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/S0888-7543(05)80120-X","article-title":"A gene for Usher syndrome type (USH1A) maps to chromosome 14q","volume":"14","author":"Kaplan","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/514899_bib10","first-page":"A152","article-title":"The genomic structure of human myosin VIIa, the gene product defective in Usher syndrome type 1B","volume":"59","author":"Kelley","year":"1996","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/514899_bib11","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1016\/S0888-7543(05)80121-1","article-title":"Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11","volume":"14","author":"Kimberling","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/514899_bib12","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum Genet"},{"key":"10.1086\/514899_bib13","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/hmg\/6.1.111","article-title":"Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB","volume":"6","author":"Levy","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/514899_bib14","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y","article-title":"Identification of a new mutation of the myosin VII head region in Usher syndrome type I","volume":"10","author":"Liu","year":"1997","journal-title":"Hum Mut"},{"key":"10.1086\/514899_bib15","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1288\/00005537-198901000-00014","article-title":"Usher syndrome: an otoneurologic study","volume":"99","author":"Moller","year":"1989","journal-title":"Laryngoscope"},{"key":"10.1086\/514899_bib16","doi-asserted-by":"crossref","first-page":"3864","DOI":"10.1073\/pnas.92.9.3864","article-title":"Structural interpretation of mutation in the b-cardiac myosin that have been implicated in familial hypertrophic cardiomypathy","volume":"9","author":"Rayment","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/514899_bib17","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1038\/347685a0","article-title":"Sequence and domain structure of Talin","volume":"347","author":"Rees","year":"1990","journal-title":"Nature"},{"key":"10.1086\/514899_bib18","series-title":"Molecular cloning: a laboratory manual","author":"Sambrook","year":"1989"},{"key":"10.1086\/514899_bib19","first-page":"A15","article-title":"The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage","volume":"55","author":"Sankila","year":"1994","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/514899_bib20","unstructured":"Seroussi E, Korostishevsky M, Kalinsky H, Sheffield VC, Gerhard D, Bonne-Tamir B (1994) Haplotype analysis and physical mapping to determine the position of Usher syndrome type 1 (USH1) and closely linked DNA microsatellite on 11q13.5. Poster presented at the 4th Chromosome 11 Workshop. St John's College, Oxford, September 26\u201328, 1994"},{"issue":"2","key":"10.1086\/514899_bib21","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1006\/geno.1993.1193","article-title":"The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions","volume":"16","author":"Sheffield","year":"1993","journal-title":"Genomics"},{"key":"10.1086\/514899_bib22","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/S0888-7543(05)80122-3","article-title":"Localization of two genes for Usher syndrome type I to chromosome 11","volume":"14","author":"Smith","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/514899_bib23","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1002\/ajmg.1320430612","article-title":"Clinical and genetic heterogeneity within the Acadian Usher population","volume":"43","author":"Smith","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1086\/514899_bib24","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1242\/jcs.107.7.1921","article-title":"Structural diversity of band 4.1 superfamily members","volume":"107","author":"Takeuchi","year":"1994","journal-title":"J Cell Sci"},{"key":"10.1086\/514899_bib25","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0962-8924(97)01019-2","article-title":"Unconventional myosins: new frontiers in actin-based motors","volume":"7","author":"Titus","year":"1997","journal-title":"Trends in Cell Biology"},{"key":"10.1086\/514899_bib26","first-page":"130","article-title":"On the inheritance of retinitis pigmentosa, with notes of cases","volume":"19","author":"Usher","year":"1914","journal-title":"R Lond Ophthalmol Hosp Rep"},{"key":"10.1086\/514899_bib27","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1093\/hmg\/5.10.1689","article-title":"Localization of the Usher syndrome type 1D gene (Ush1D) to chromosome 10","volume":"5","author":"Wayne","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/514899_bib28","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/374060a0","article-title":"Defective myosin VIIA gene responsible for Usher syndrome type 1B","volume":"374","author":"Weil","year":"1995","journal-title":"Nature"},{"key":"10.1086\/514899_bib29","doi-asserted-by":"crossref","first-page":"3232","DOI":"10.1073\/pnas.93.8.3232","article-title":"Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia","volume":"93","author":"Weil","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/514899_bib30","first-page":"1074","article-title":"Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients","volume":"59","author":"Weston","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/514899_bib31","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/ng0693-202","article-title":"A common mutation in the FACC gene causes Fanconi anemia in Ashkenazi Jews","volume":"4","author":"Whitney","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/514899_bib32","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S0962-8924(00)89053-4","article-title":"Regulation of calmodulin binding myosins","volume":"5","author":"Wolenski","year":"1995","journal-title":"Trends Cell Biol"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707641883?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707641883?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T01:14:08Z","timestamp":1708391648000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707641883"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,10]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1997,10]]}},"alternative-id":["S0002929707641883"],"URL":"https:\/\/doi.org\/10.1086\/514899","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1997,10]]}}}