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Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
Tomatsu S,
Fukuda S,
Cooper A,
Wraith JE,
Yamada N,
Isogai K,
Kato Z,
Sukegawa K,
Kondo N,
Suzuki Y, et al.
Department of Pediatrics, Gifu University School of Medicine, Japan.
PMID: 7581409 [PubMed - indexed for MEDLINE]
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