Found: 4
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Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease.
- Published in:
- Human Mutation, 1998, v. 11, p. S42, doi. 10.1002/humu.1380110115
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- Publication type:
- Article
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
- Published in:
- Human Mutation, 1997, v. 10, n. 5, p. 368, doi. 10.1002/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B
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- Publication type:
- Article
Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 136, doi. 10.1002/humu.1380060206
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- Publication type:
- Article
Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 195, doi. 10.1002/humu.1380060218
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- Article