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A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.

Human mutation - 1 Aug 2000

Lee E H, Park J H, Coe C J, Hahn S H

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PMID: 10923050
DOI: 10.1002/1098-1004(200008)16:2<180::AID-HUMU21>3.0.CO;2-X

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Related research

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A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.PMID 10923050Read ↗

Novel homozygous HEXB mutation identified in a consanguineous Iranian pedigree with Sandhoff diseaseSemantic proximity Read ↗

Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.Semantic proximity Read ↗

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.Semantic proximity Read ↗

Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.Semantic proximity Read ↗

Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.Semantic proximity Read ↗

[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].Semantic proximity Read ↗

P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.Semantic proximity Read ↗

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.Semantic proximity Read ↗

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.Semantic proximity Read ↗

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.Semantic proximity Read ↗

Clinical and genetic features of a case with juvenile onset sandhoff disease.Semantic proximity Read ↗

[Sandhoff disease (beta-hexosaminidase alpha-chain deficiency)].Semantic proximity Read ↗

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