Article
DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1).
The Japanese journal of human genetics - 1 Dec 1997
Lee S T, Park S K, Lee H, Lee J S, Park Y W
Abstract excerpt
Tyrosinase-related oculocutaneous albinism (OCA1), an autosomal recessive inborn error of pigmentation, is caused by the deficiency of tyrosinase. We had previously identified two different mutations of the TYR gene in a four year old Korean male with mild OCA; a P310insC frameshift in exon 2 and...
Topics
- Albinism, Oculocutaneous
- Asian People
- Child, Preschool
- DNA
- Fetal Diseases
- Humans
- Korea
- Male
- Monophenol Monooxygenase
- Mutation
- Prenatal Diagnosis