Article
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Human genetics - 1 Mar 1992
Speiser P W, New M I, Tannin G M, Pickering D, Yang S Y, White P C
Abstract excerpt
An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the dise...
Topics
- Adrenal Hyperplasia, Congenital
- Female
- Genotype
- HLA Antigens
- Humans
- Inuit
- Male
- Mutation
- Oligonucleotide Probes