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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...

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PMID: 2303461

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

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