Molecular and phenotypic variation in patients with severe Hunter syndrome.

Timms, K M; Bondeson, M L; Ansari-Lari, M A; Lagerstedt, K; Muzny, D M; Dugan-Rocha, S P; Nelson, D L; Pettersson, U; Gibbs, R A

Timms, K M; Bondeson, M L; Ansari-Lari, M A; Lagerstedt, K; Muzny, D M; Dugan-Rocha, S P; Nelson, D L; Pettersson, U; Gibbs, R A.

Affiliation

Timms KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Hum Mol Genet ; 6(3): 479-86, 1997 Mar.

Article in En | MEDLINE | ID: mdl-9147653

Subject(s)

Gene Deletion; Iduronate Sulfatase/genetics; Mucopolysaccharidosis II/genetics; Nuclear Proteins; Trans-Activators; Chromosome Mapping; Cloning, Molecular; Electrophoresis, Agar Gel; Gene Expression; Gene Rearrangement; Humans; Male; Molecular Sequence Data; Mucopolysaccharidosis II/enzymology; Phenotype; Polymerase Chain Reaction; Proteins/genetics; Pseudogenes; Recombination, Genetic; Seizures/genetics; X Chromosome/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Trans-Activators / Mucopolysaccharidosis II / Gene Deletion / Iduronate Sulfatase Type of study: Prognostic_studies Limits: Humans / Male Language: En Journal: Hum Mol Genet Year: 1997 Document type: Article

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