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Article

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

American journal of human genetics - 1 Jan 1998

Zhao H G, Aronovich E L, Whitley C B

Abstract excerpt

Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB, results from defects in the gene for alpha-N-acetylglucosaminidase (NAGLU); only a few mutations have been described. To rapidly identify most NAGLU mutations, an automated sequencing procedure was developed for analysis of the entire coding region, including exon-intron borders. By this method, eight affected families were studied, and the mutations...

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Source

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Identifiers

PMID: 9443875
DOI: 10.1086/301682
PMCID: PMC1376807

Genes

NAGLU

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Genotype-phenotype correspondence in Sanfilippo syndrome type B.PMID 9443875Read ↗

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).Semantic proximity Read ↗

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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Semantic proximity Read ↗

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Semantic proximity Read ↗

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Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.Semantic proximity Read ↗

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.Semantic proximity Read ↗

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