Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

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

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

Affiliation

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

Am J Hum Genet ; 58(1): 86-96, 1996 Jan.

Article in En | MEDLINE | ID: mdl-8554072

Subject(s)

Mutation; Polycystic Kidney, Autosomal Dominant/genetics; Proteins/genetics; Alternative Splicing; Base Sequence; DNA Primers; Exons; Female; Frameshift Mutation; Humans; Introns; Kidney Failure, Chronic/epidemiology; Kidney Failure, Chronic/genetics; Male; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Protein Biosynthesis; Protein Structure, Secondary; Proteins/chemistry; Recombinant Proteins/biosynthesis; Recombinant Proteins/chemistry; Sequence Deletion; TRPP Cation Channels

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Polycystic Kidney, Autosomal Dominant / Mutation Type of study: Diagnostic_studies / Screening_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 1996 Type: Article Affiliation country: United kingdom

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