Article
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency.
Clinical chemistry - 1 Oct 1998
Krone N, Roscher A A, Schwarz H P, Braun A
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease with a wide range of clinical manifestations. It is most often caused by deficiency of steroid 21-hydroxylase, reflecting any of a wide range of mutations in the 21-hydroxylase (CYP21) gene. A major challenge in molecular diagnostics of CAH is the high homology between the CYP21 gene and the CYP21P pseudogene and the phenomenon of apparent...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Blotting, Southern
- Female
- Gene Deletion
- Humans
- Male
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Sensitivity and Specificity
- Sequence Analysis, DNA