Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 IIIA patients from different regions of The Netherlands. R245H was present in 51 alleles, representing 56.7% of the total...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Alleles

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Amino Acid Substitution

Share to Arginine

Share to Child, Preschool

Share to Gene Frequency

Share to Mutation

Source

Identifiers

PMID: 9700599
DOI: 10.1023/a:1005362826552

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.PMID 9700599Read ↗

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

Molecular defects in Sanfilippo syndrome type A.Semantic proximity Read ↗

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

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.Semantic proximity Read ↗

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 ↗

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

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.Semantic proximity Read ↗

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

Genotype-phenotype correspondence in Sanfilippo syndrome type B.Semantic proximity Read ↗

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

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.