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Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese pop...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3493039/ https://www.ncbi.nlm.nih.gov/pubmed/22294196 http://dx.doi.org/10.3892/mmr.2012.764 |