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Article

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

Neurogenetics - 1 Feb 2009

Zampieri Stefania, Filocamo Mirella, Buratti Emanuele, Stroppiano Marina, Vlahovicek Kristian, Rosso Natalia, Bignulin Eleonora, Regis Stefano, Carnevale Franco, Bembi Bruno, Dardis Andrea

Abstract excerpt

We report the molecular characterization of 12 unrelated Italian patients affected with Sandhoff disease (SD), a recessively inherited disorder caused by mutations in HEXB gene. We identified 11 different mutations of which six are novel: one large deletion of 2,406 nt, (c.299+1471_408del2406), one frameshift mutation c.965delT (p.I322fsX32), one nonsense c.1372C>T (p.Q458X), and three splicing mutations...

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Source

Identifiers

PMID: 18758829
DOI: 10.1007/s10048-008-0145-1

Genes

HEXB

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.PMID 18758829Read ↗

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