Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene

American Journal of Medical Genetics

Volumn 65, Issue 2, 1996, Pages 155-159

  Rossetti, Sandro ^a   Bresin, Elena ^a   Restagno, Gabriella ^b   Carbonara, Angelo ^c   Corrà, Stefano ^a   De Prisco, Ornella ^d   Pignatti, Pier Franco ^a   Turco, Alberto E ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

^b MOLINETTE HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d USL 67 Nephrology and Dialysis Service   (Italy)

Author keywords

ADPKD; heteroduplex analysis; mutation detection; nonsense mutations; PCR; PKD1 gene

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME ANALYSIS; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSCRIPTION;

ADOLESCENT; ADULT; CODON, TERMINATOR; FEMALE; GENETIC MARKERS; HUMANS; ITALY; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID HETERODUPLEXES; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; PROTEINS; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; TRPP CATION CHANNELS;

EID: 0029861825     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P     Document Type: Article

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