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Article

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

Human molecular genetics - 1 Mar 1995

Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi G M, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orü T

Abstract excerpt

Mutations causing mucopolysaccharidosis IVA in 15 Japanese and one Caucasian patient were characterized. To screen these mutations, we used a combination of single strand conformation polymorphism analysis and heteroduplex analysis for PCR products of targeted cDNA or genomic DNA. Various small mutations were identified in 23 of 26 alleles, while the other six alleles had large rearrangements. Cycle sequencing of...

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Source

Identifiers

PMID: 7795586
DOI: 10.1093/hmg/4.3.341

Genes

GALNS

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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