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Article

Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).

Molecular human reproduction - 1 Mar 1996

Cramer D W, Goldstein D P, Fraer C, Reichardt J K

Abstract excerpt

To follow-up our previous observation that vaginal agenesis might be associated with decreased activity of galactose-1-phosphate uridyl transferase (GALT), we studied activity and genotype of GALT in 13 daughters with vaginal agenesis and their mothers. For comparison, GALT measurements were available from 113 pre-menopausal women with no known Müllerian anomalies selected from the general population. Red cell...

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Source

Identifiers

PMID: 9238673
DOI: 10.1093/molehr/2.3.145

Genes

GALT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).PMID 9238673Read ↗

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Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.Semantic proximity Read ↗

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The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vaginaSemantic proximity Read ↗

Fertility and Impact of Pregnancies on the Mother and Child in Classic GalactosemiaSemantic proximity Read ↗

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