Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency.

doi:10.1007/s004390050280

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Article

Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency.

Human genetics - 1 Dec 1996

Carrera P, Bordone L, Azzani T, Brunelli V, Garancini M P, Chiumello G, Ferrari M

Abstract excerpt

Seventy-three Italian patients affected by steroid 21-hydroxylase deficiency were studied by a PCR-allele-specific oligonucleotide protocol in order to evaluate the presence of eight known point mutations. The majority of chromosomes were found to carry point gene conversions normally present in...

Topics

Adrenal Hyperplasia, Congenital
Adult
Alleles
Female
Gene Deletion
Genotype
Humans
Male
Point Mutation
Polymerase Chain Reaction
Steroid 21-Hydroxylase

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