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Article

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.

The journal of sexual medicine - 1 Sept 2017

Engeli Roger T, Tsachaki Maria, Hassan Heba A, Sager Christoph P, Essawi Mona L, Gad Yehia Z, Kamel Alaa K, Mazen Inas, Odermatt Alex

Abstract excerpt

BACKGROUND: Mutations in the HSD17B3 gene are associated with a 46,XY disorder of sexual development (46,XY DSD) as a result of low testosterone production during embryogenesis. AIM: To elucidate the molecular basis of the disorder by chemically analyzing four missense mutations in HSD17B3 (T54A, M164T, L194P, G289S) from Egyptian patients with 46,XY DSD. METHODS: Expression plasmids for wild-type...

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Identifiers

PMID: 28859874
DOI: 10.1016/j.jsxm.2017.07.006

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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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