Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Tomatsu, S; Fukuda, S; Yamagishi, A; Cooper, A; Wraith, J F; Hori, T; Kato, Z; Yamada, N; Isogai, K; Sukegawa, K; Kondo, N; Suzuki, Y; Shimozawa, N; Orii, T

Tomatsu, S; Fukuda, S; Yamagishi, A; Cooper, A; Wraith, J F; Hori, T; Kato, Z; Yamada, N; Isogai, K; Sukegawa, K; Kondo, N; Suzuki, Y; Shimozawa, N; Orii, T.

Affiliation

Tomatsu S; Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan.

Am J Hum Genet ; 58(5): 950-62, 1996 May.

Article in En | MEDLINE | ID: mdl-8651279

Subject(s)

Chondroitinsulfatases/deficiency; Exons/genetics; Mucopolysaccharidosis IV/genetics; Adolescent; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Chondroitinsulfatases/genetics; Gene Deletion; Humans; Molecular Sequence Data; Mucopolysaccharidosis IV/enzymology; Mucopolysaccharidosis IV/etiology; Point Mutation; Polymerase Chain Reaction; Sequence Analysis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Chondroitinsulfatases / Mucopolysaccharidosis IV Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Humans Language: En Journal: Am J Hum Genet Year: 1996 Type: Article Affiliation country: Japan

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