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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493628/
https://www.ncbi.nlm.nih.gov/pubmed/28667292
http://dx.doi.org/10.1038/s41598-017-04401-5

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