Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causi...
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
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Author / Creator
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 and Self, Jay E.
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 populations and is inherited through autosomal rece...
Alternative Titles
Full title
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
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TN_cdi_doaj_primary_oai_doaj_org_article_eb88692a95b64c0eb747fffe226ced8a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_eb88692a95b64c0eb747fffe226ced8a
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-04401-5
