Article
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
The British journal of dermatology - 1 Sept 2010
Sengupta M, Mondal M, Jaiswal P, Sinha S, Chaki M, Samanta S, Ray K
Abstract excerpt
BACKGROUND: Oculocutaneous albinism (OCA) refers to a group of inherited disorders where the patients have little or no pigment in the eyes, skin and hair. Mutations in genes regulating multi-step melanin biosynthesis are the basis of four 'classical' OCA types with overlapping clinical features. There are a few reports on defects in TYR and a single report on SLC45A2 in Indians affected with OCA but no report on...
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