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Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism
BACKGROUND: Tyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of m...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544823/ https://www.ncbi.nlm.nih.gov/pubmed/34707637 http://dx.doi.org/10.3389/fgene.2021.715437 |