๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism

โœ Scribed by Shimizu, Hiroshi; Ishiko, Akira; Kikuchi, Arata; Akiyama, Masashi; Suzumori, Kaoru; Nishikawa, Takeji

Book ID
123116973
Publisher
The Lancet
Year
1992
Tongue
English
Weight
312 KB
Volume
340
Category
Article
ISSN
0140-6736

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

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