A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

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Article

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

The Journal of biological chemistry - 25 Feb 1990

Chiou S H, Hu M C, Chung B C

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-hydroxylase (P450c21) deficiency. Many forms of CAH exist resulting from various mutations of the CYP21B gene. We sequenced CYP21B cDNA from a normal person and its genes from a patient with simple virilizing CAH. When comparing several CYP21B sequences, we found it was polymorphic. In the patient, a single base...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Arginine
Asparagine
Base Sequence
Codon
DNA
Female
Genes
Humans
Isoleucine
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oligonucleotide Probes

Plasmids

Reference Values

Restriction Mapping

Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 2303461

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2303461-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.PMID 2303461Read ↗

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