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Article

Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.

The Journal of biological chemistry - 3 Sept 2010

Kang Nayoung, Jun Ah Hyun, Bhutia Yangzom Doma, Kannan Natarajan, Unadkat Jashvant D, Govindarajan Rajgopal

Abstract excerpt

Accumulating evidence reveals that sole mutations in hENT3 cause a spectrum of human genetic disorders. Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic de...

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Identifiers

PMID: 20595384
DOI: 10.1074/jbc.M110.109199
PMCID: PMC2934698

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20595384-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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