Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene.

Lagerstedt, K; Carlberg, B M; Karimi-Nejad, R; Kleijer, W J; Bondeson, M L

Lagerstedt, K; Carlberg, B M; Karimi-Nejad, R; Kleijer, W J; Bondeson, M L.

Affiliation

Lagerstedt K; Section of Medical Genetics, Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Uppsala, Sweden.

Hum Mutat ; 15(4): 324-31, 2000.

Article in En | MEDLINE | ID: mdl-10737977

Subject(s)

Alternative Splicing/genetics; Iduronate Sulfatase/genetics; Mucopolysaccharidosis II/enzymology; Mucopolysaccharidosis II/genetics; Recombination, Genetic; Sequence Deletion; Base Composition; Base Sequence; Child; Humans; Infant, Newborn; Male; Molecular Sequence Data

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Collection: 01-internacional Database: MEDLINE Main subject: Recombination, Genetic / Mucopolysaccharidosis II / Sequence Deletion / Alternative Splicing / Iduronate Sulfatase Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Male / Newborn Language: En Journal: Hum Mutat Year: 2000 Document type: Article

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