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Article

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.

Journal of inherited metabolic disease - 1 Feb 2001

Coll M J, Antón C, Chabás A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11286389
DOI: 10.1023/a:1005627311402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.PMID 11286389Read ↗

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Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.Semantic proximity Read ↗

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.Semantic proximity Read ↗

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.Semantic proximity Read ↗

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.Semantic proximity Read ↗

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.Semantic proximity Read ↗

Analysis of Sanfilippo A gene mutations in a large pedigree.Semantic proximity Read ↗

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