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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 the cause of 17 alpha-hydroxylase deficiency in two unrelated homozygous patients from Guam. We used site-directed...

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PMID: 1714904

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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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Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency.PMID 1714904Read ↗

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