Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency.

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Article

Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency.

The Journal of biological chemistry - 25 Aug 1991

Lin D, Harikrishna J A, Moore C C, Jones K L, Miller W L

Abstract excerpt

Steroid 17 alpha-hydroxylase deficiency is caused by defects in cytochrome P450c17, the single enzyme that has 17-alpha hydroxylase and 17,20-lyase activities. We describe a rapid and efficient polymerase chain reaction tactic for identifying these genetic lesions and identify Ser106----Pro as th...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Alleles
Base Sequence
Blotting, Northern
Blotting, Southern
Chromatography, Thin Layer
DNA
Electrophoresis, Polyacrylamide Gel
Female
Homozygote
Humans
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation
Polymerase Chain Reaction
Pregnenolone
Progesterone

Source

Open in PubMed

Identifiers

PMID: 1714904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1714904-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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