Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
Abstract 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 E...
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Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Nature Portfolio
2017
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Acceso en línea: | https://doaj.org/article/eb88692a95b64c0eb747fffe226ced8a |
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