Article
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 May 2008
Menassa R, Tardy V, Despert F, Bouvattier-Morel C, Brossier J P, Cartigny M, Morel Y
Abstract excerpt
CONTEXT: Steroid 21-hydroxylase deficiency is the most common enzymatic defect causing congenital adrenal hyperplasia with good genotype/phenotype relationships for common mutations. To determine the severity of rare mutations is essential for genetic counseling and better understanding of the structure-function of the cytochrome P450c21. OBJECTIVE: The p.H62L mutation was the most frequent of 60 new mutations...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Amino Acid Sequence
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Infant, Newborn
- Male