Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

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Article

Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

The Journal of biological chemistry - 5 Dec 1993

Monno S, Ogawa H, Date T, Fujioka M, Miller W L, Kobayashi M

Abstract excerpt

We identified a new homozygous missense mutation His373-->Leu in the CYP17 gene of two sisters with 17 alpha-hydroxylase deficiency with an elevated plasma aldosterone concentration by sequencing their genomic DNAs amplified by polymerase chain reaction. Using polymerase chain reaction-based site...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Alleles
Amino Acid Sequence
Animals
Base Sequence
Blotting, Southern
Cell Line
Codon
DNA
DNA Primers
Exons
Female
Histidine
Humans
Leucine
Leukocytes

Source

Open in PubMed

Identifiers

PMID: 8245018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8245018-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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