Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

Cole, D E; Fukuda, S; Gordon, B A; Rip, J W; LeCouteur, A N; Rupar, C A; Tomatsu, S; Ogawa, T; Sukegawa, K; Orii, T

Cole, D E; Fukuda, S; Gordon, B A; Rip, J W; LeCouteur, A N; Rupar, C A; Tomatsu, S; Ogawa, T; Sukegawa, K; Orii, T.

Affiliation

Cole DE; Department of Clinical Biochemistry, University of Toronto, Ontario, Canada.

Am J Med Genet ; 63(4): 558-65, 1996 Jun 28.

Article in En | MEDLINE | ID: mdl-8826435

Subject(s)

Chondroitinsulfatases/genetics; Mucopolysaccharidosis IV/enzymology; Mucopolysaccharidosis IV/genetics; Mutation; Adolescent; Adult; Age of Onset; Alleles; Amino Acid Sequence; Blotting, Northern; Blotting, Southern; Cells, Cultured; Child; Chondroitinsulfatases/metabolism; Corneal Opacity/genetics; Female; Fibroblasts/enzymology; Glycosaminoglycans/metabolism; Glycosaminoglycans/urine; Hip/diagnostic imaging; Hip/pathology; Humans; Infant; Infant, Newborn; Male; Molecular Sequence Data; Pedigree; Pelvis/abnormalities; Pelvis/diagnostic imaging; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Pregnancy; Radiography; Spine/pathology

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Collection: 01-internacional Database: MEDLINE Main subject: Chondroitinsulfatases / Mucopolysaccharidosis IV / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Infant / Male / Newborn / Pregnancy Language: En Journal: Am J Med Genet Year: 1996 Document type: Article Affiliation country: Canada Country of publication: United States

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