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Article

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Human mutation - 1 Jan 1997

Bunge S, Ince H, Steglich C, Kleijer W J, Beck M, Zaremba J, van Diggelen O P, Weber B, Hopwood J J, Gal A

Abstract excerpt

Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42 European patients. Sixteen of t...

Topics

Binding Sites
Cells, Cultured
Europe
Fibroblasts
Gene Frequency
Genes
Genetic Heterogeneity
Humans
Hydrolases
Mucopolysaccharidosis III
Mutation
Nucleic Acid Heteroduplexes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 9401012
DOI: 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9401012-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).PMID 9401012Read ↗

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.Semantic proximity Read ↗

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Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.Semantic proximity Read ↗

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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutationsSemantic proximity Read ↗

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).Semantic proximity Read ↗

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 ↗

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