Article
[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2003
Liao Xiang-yun, Zhang Ya-fen, Gu Xue-fan
Abstract excerpt
OBJECTIVE: The major cause of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which accounts for 90% - 95% of all cases in most populations. This study was conducted to characterize the molecular basis of the 21-hydroxylase deficiency and to obtain the spectrum of the CYP21 gene mutations in a group of Chinese patients, and analyze the relationship of genotype and phenotype. METHODS: To detect...
Topics
- Adrenal Hyperplasia, Congenital
- Child
- Child, Preschool
- China
- Family Health
- Female
- Gene Frequency
- Genotype
- Humans
- Infant
- Male
- Phenotype