A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

Peral, B; Ong, A C; San Millán, J L; Gamble, V; Rees, L; Harris, P C

Peral, B; Ong, A C; San Millán, J L; Gamble, V; Rees, L; Harris, P C.

Affiliation

Peral B; MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

Hum Mol Genet ; 5(4): 539-42, 1996 Apr.

Article in En | MEDLINE | ID: mdl-8845849

Subject(s)

Point Mutation; Polycystic Kidney, Autosomal Dominant/genetics; Adult; Age of Onset; Amino Acid Sequence; Base Sequence; Cell Line; Child; DNA; Diseases in Twins/genetics; Female; Humans; Male; Molecular Sequence Data; Pedigree; Polycystic Kidney, Autosomal Dominant/congenital; Polycystic Kidney, Autosomal Dominant/diagnostic imaging; Twins, Dizygotic; Ultrasonography

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Collection: 01-internacional Database: MEDLINE Main subject: Polycystic Kidney, Autosomal Dominant / Point Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 1996 Type: Article Affiliation country: United kingdom

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