Article
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
American journal of human genetics - 1 Apr 1994
Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi R K, Spritz R A
Abstract excerpt
We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA a...
Topics
- Adolescent
- Adult
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetics, Population
- Haplotypes
- Humans
- Jews
- Libya
- Male
- Middle Aged
- Molecular Sequence Data
- Morocco