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Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism

PURPOSE: Albinism is a group of genetic disorders, showing a broad spectrum of different phenotypes. The purpose of this study was to screen known candidate genes for oculocutaneous albinism (OCA) and ocular albinism (OA) mutations in Indian patients. METHODS: Blood samples were collected from 23 pr...

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Detalles Bibliográficos
Autores principales: Renugadevi, Kathirvel, Sil, Asim Kumar, Perumalsamy, Vijayalakshmi, Sundaresan, Periasamy
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925902/
https://www.ncbi.nlm.nih.gov/pubmed/20806075