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Article

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.

Biochemical and biophysical research communications - 30 Nov 2012

Huber-Ruano Isabel, Errasti-Murugarren Ekaitz, Godoy Valeria, Vera Ángel, Andreu Antoni L, Garcia-Arumi Elena, Martí Ramon, Pastor-Anglada Marçal

Abstract excerpt

The H syndrome (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, hypertrichosis, histiocytosis and short stature. It is caused by mutations in the SLC29A3 gene, which encodes for the equilibrative nucleoside transporter 3 protein (ENT3), of still uncertain subcellular localisation. Here we report a new case of H syndrome with the novel mutation c.243delA, which has been...

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Identifiers

PMID: 23058913
DOI: 10.1016/j.bbrc.2012.09.143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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