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

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

Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. Diagnostic sequencing of the TYR and OCA2 genes is routinely used for molecular diagnosis of...

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Bibliographic Details
Main Authors: Jackson Gao, Leera D’Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David R. Adams, Santa Tumminia, Xinjing Wang
Format: Article
Language:English
Published: BMC 2017-04-01
Series:Cell & Bioscience
Subjects:
Albinism
TYR gene
OCA2 gene
p.R305W
Deletion
Linkage disequilibrium
Online Access:http://link.springer.com/article/10.1186/s13578-017-0149-3

Internet

http://link.springer.com/article/10.1186/s13578-017-0149-3

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