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Article

Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.

European journal of endocrinology - 1 Mar 2008

Tiosano Dov, Knopf Carlos, Koren Ilana, Levanon Nurit, Hartmann Michaela F, Hochberg Ze'ev, Wudy Stefan A

Abstract excerpt

CONTEXT: The CYP17A1 gene encodes many enzymatic reactions including 17alpha-hydroxylase and 17,20-lyase activities. Mutations that selectively ablate the 17,20-lyase activity, causing isolated 17,20-lyase deficiency, are exceedingly rare and may belong to the rarest of all disorders of steroidogenesis. We have previously reported an E305G mutation in the active site of CYP17A1 that apparently causes isolated...

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Identifiers

PMID: 18299473
DOI: 10.1530/EJE-07-0712

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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