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Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene

โœ Scribed by M. Sengupta; M. Mondal; P. Jaiswal; S. Sinha; M. Chaki; S. Samanta; K. Ray


Book ID
108671247
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
415 KB
Volume
163
Category
Article
ISSN
0007-0963

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Molecular basis of type I (tryrosinase-r
โœ William S. Oetting; Richard A. King ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 522 KB

## Communicated by David Vale Type I (tyrosinase related) oculocutaneous albinism (OCA) results from mutations of the tyrosinase gene on chromosome 1 l q that lead to reduced or absent melanin pigment synthesis. The phenotype of Type I OCA is broad, ranging from a total lack to only a moderate red