Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes. OCA1 is the most common cause of albinism in European p...

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Udgivet i:Sci Rep
Main Authors: Norman, Chelsea S., O’Gorman, Luke, Gibson, Jane, Pengelly, Reuben J., Baralle, Diana, Ratnayaka, J. Arjuna, Griffiths, Helen, Rose-Zerilli, Matthew, Ranger, Megan, Bunyan, David, Lee, Helena, Page, Rhiannon, Newall, Tutte, Shawkat, Fatima, Mattocks, Christopher, Ward, Daniel, Ennis, Sarah, Self, Jay E.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5493628/
https://ncbi.nlm.nih.gov/pubmed/28667292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-04401-5
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