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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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Autors principals: Renugadevi, Kathirvel, Sil, Asim Kumar, Perumalsamy, Vijayalakshmi, Sundaresan, Periasamy
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2925902/
https://ncbi.nlm.nih.gov/pubmed/20806075
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