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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...

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Detalles Bibliográficos
Autores principales: Patel, Milan, Sergeev, Yuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808255/
https://www.ncbi.nlm.nih.gov/pubmed/33458560