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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Gao, Jackson; D'Souza, Leera; Wetherby, Keith; Antolik, Christian; Reeves, Melissa; Adams, David R; Tumminia, Santa; Wang, Xinjing.
Affiliation
  • Gao J; DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.
  • D'Souza L; DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.
  • Wetherby K; DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.
  • Antolik C; DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.
  • Reeves M; DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.
  • Adams DR; National Human Genome Research Institute, Bethesda, Maryland USA.
  • Tumminia S; National Eye Institute, National Institutes of Health, Bethesda, Maryland USA.
  • Wang X; DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.
Cell Biosci ; 7: 22, 2017.
Article in En | MEDLINE | ID: mdl-28451379
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Cell Biosci Year: 2017 Document type: Article Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Cell Biosci Year: 2017 Document type: Article Country of publication: United kingdom