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Functional in silico analysis of human tyrosinase and OCA1 associated mutations
Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. OCA1 exists in two forms: OCA1A and OCA1B. OCA1A is caused by a full loss of the human tyrosinase protein (Tyr), leading to an absence of pigment in skin, hair, and eyes, while OCA1B...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808255/ https://www.ncbi.nlm.nih.gov/pubmed/33458560 |