An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.

doi:10.1007/s004390050186

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Article

An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.

Human genetics - 1 Aug 1996

Lajic S, Wedell A

Abstract excerpt

Direct DNA sequencing of the steroid 21-hydroxylase gene (CYP21) revealed two novel mutations in two patients with severe congenital adrenal hyperplasia. The nonsense mutation Trp23Stop (TGG --> TGA) was found in a woman with the simple virilizing form of the disease. She was a compound heterozyg...

Topics

Adrenal Hyperplasia, Congenital
Adult
Base Sequence
Codon, Nonsense
DNA
Female
Heterozygote
Humans
Infant, Newborn
Introns
Male
Molecular Sequence Data
Mutation
Point Mutation
Polymerase Chain Reaction
RNA Splicing
Steroid 21-Hydroxylase

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