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Article

[A molecular method of diagnosis of congenital adrenal hyperplasia].

Harefuah - 1 Dec 2000

Israel S, Brautbar C

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is caused mainly by deficiency of the 21-hydroxylase enzyme. The disease may appear in the classical salt-losing, simple virilizing forms or as a mild, nonclassical form. 21-hydroxylase is encoded by the CYP21B gene on the short arm of chromosome 6, in the midst of the human leukocyte antigen (HLA) complex, between HLA Class I and Class II regions. We describe a method for...

Topics

Adrenal Hyperplasia, Congenital
Alternative Splicing
Amino Acid Substitution
Chromosome Mapping
Chromosomes, Human, Pair 6
Female
Humans
Male
Mutation
Pedigree
Point Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Deletion

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 11341187

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-11341187-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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