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Molecular Basis of Type IA (Tyrosinase Negative) Oculocutaneous Albinism

โœ Scribed by King, Richard A. ;Oetting, William S.

Book ID
111259452
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
503 KB
Volume
3
Category
Article
ISSN
0893-5785

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Molecular analysis of type I-A (tyrosina
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism
โœ William S. Oetting; Richard A. King ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 594 KB

Type I oculocutaneous albinism (OCA) is caused by the reduction in or absence of activity of tyrosinase in melanocytes in skin, hair, and the eyes, the result of mutations of the tyrosinase gene. To date, a total of 22 unique mutations in the coding region of tyrosinase have been described in the li

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Molecular basis of type I (tryrosinase-related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene
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