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Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Human genetics - 1 Apr 1995

Tomatsu S, Fukuda S, Cooper A, Wraith J E, Uchiyama A, Hori T, Nakashima Y, Yamada N, Sukegawa K, Kondo N

Abstract excerpt

Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibited a wide spectrum of clinical severity. Initially, using the full-length cDNA as a probe, five...

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PMID: 7705830
DOI: 10.1007/BF00208958

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

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