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Tyrosinase gene mutations in the Chinese Han population with OCA1
Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study...
Guardat en:
| Publicat a: | Genet Res (Camb) |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cambridge University Press
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7045076/ https://ncbi.nlm.nih.gov/pubmed/25577957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672314000160 |
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