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Mutation analysis of a Chinese family with oculocutaneous albinism
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese...
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| Publicat a: | Oncotarget |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Impact Journals LLC
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5356713/ https://ncbi.nlm.nih.gov/pubmed/27829221 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.13109 |
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