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

doi:10.1023/a:1005362826552

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Article

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

Journal of inherited metabolic disease - 1 Jun 1998

Weber B, van de Kamp J J, Kleijer W J, Guo X H, Blanch L, van Diggelen O P, Wevers R, Poorthuis B J, Hopwood J J

Abstract excerpt

We have identified a common mutation (R245H) in the sulphamidase gene of Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA, MPS IIIA) patients from The Netherlands. Allele-specific oligonucleotide hybridization was used to determine the incidence of this mutation in 45 unrelated MPS III...

Topics

Adolescent
Adult
Alleles
Amino Acid Substitution
Arginine
Child
Child, Preschool
Female
Gene Frequency
Histidine
Humans
Hydrolases
Male
Mucopolysaccharidosis III
Mutation
Netherlands

Source

Open in PubMed

Identifiers

PMID: 9700599
DOI: 10.1023/a:1005362826552

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9700599-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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