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Article

The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

Journal of dermatological science - 1 Jan 2010

Molho-Pessach Vered, Suarez José, Perrin Christophe, Chiaverini Christine, Doviner Victoria, Tristan-Clavijo Enriqueta, Colmenero Isabel, Giuliano Fabienne, Torrelo Antonio, Zlotogorski Abraham

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Share to Amino Acids
Share to Nucleoside Transport Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sequence Analysis, DNA

Share to Sequence Homology, Nucleic Acid

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Identifiers

PMID: 19889517
DOI: 10.1016/j.jdermsci.2009.09.011

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.PMID 19889517Read ↗

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome.Semantic proximity Read ↗

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

Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.Semantic proximity Read ↗

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.Semantic proximity Read ↗

The H syndrome is caused by mutations in the nucleoside transporter hENT3.Semantic proximity Read ↗

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.Semantic proximity Read ↗

A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.Semantic proximity Read ↗

The 4H syndrome due to RNF216 mutation.Semantic proximity Read ↗

Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposisSemantic proximity Read ↗

A case of MYH9 disorders caused by a novel mutation (p.K74E).Semantic proximity Read ↗

Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.Semantic proximity Read ↗

A case report of Hennekam syndrome with a mutation in the CCBE1 gene.Semantic proximity Read ↗

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