Article
Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000
Wang Hsu-Hui, Lee Hsien-Hsiung, Wu Du-An, Lee Yann-Jin, Chung Bon-Chu, Wang Tso-Ren
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We have experience of molecular analysis of in the CYP21 gene in 85 unrelated CAH families, in Taiwan for ten years. All ten exons of were analyzed by diffe...
Topics
- Adrenal Hyperplasia, Congenital
- Exons
- Female
- Heterozygote
- Homozygote
- Humans
- Infant
- Introns
- Male
- Mutation
- Steroid 21-Hydroxylase
- Taiwan