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

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 OCA sub...

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Detalles Bibliográficos
Autores principales: Gao, Jackson, D’Souza, Leera, Wetherby, Keith, Antolik, Christian, Reeves, Melissa, Adams, David R., Tumminia, Santa, Wang, Xinjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406851/
https://www.ncbi.nlm.nih.gov/pubmed/28451379
http://dx.doi.org/10.1186/s13578-017-0149-3

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