Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report.

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Article

Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report.

JPMA. The Journal of the Pakistan Medical Association - 1 Jul 2002

Khan A H, Nasir M I, Moatter T

Abstract excerpt

OBJECTIVE: To characterize specific mutations within the 21-hydroxylase gene (CYP21-B) using ARMS-PCR assay in patients with congenital adrenal hyperplasia (CAH) and to compare it with that reported in other populations. SUBJECTS AND METHODS: Five families, having an index case with CAH diagnosed on the basis of clinical and biochemical findings volunteered to give blood samples for analysis. A strategy, based on...

Topics

Adrenal Hyperplasia, Congenital
Adult
DNA Mutational Analysis
Female
Gene Expression Regulation
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pakistan

Pedigree

Point Mutation

Sensitivity and Specificity

Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 12481658

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-12481658-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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