Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease

Human Mutation

Volumn 10, Issue 2, 1997, Pages 164-167

  Turco, Alberto E ^a   Rossetti, Sandro ^a   Bresin, Elena ^a   Englisch, Sabine ^a   Corrà, Stefano ^a   Pignatti, Pier Franco ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

Autosomal dominant; PKD1 gene; Polycystic kidney disease

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; ITALY; KIDNEY POLYCYSTIC DISEASE; MALE; PRIORITY JOURNAL;

ADULT; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID HETERODUPLEXES; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PREGNANCY; PROTEINS; REPETITIVE SEQUENCES, NUCLEIC ACID; TRPP CATION CHANNELS;

EID: 0030852875     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO;2-K     Document Type: Article

References (7)

1. American PKD1 Consortium (1995) Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 4:575-582.
2. Beaudet AL, Tsui L-C (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
3. Daoust MC, Reynolds DM, Bichet DG, Somlo S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736.
4. European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894.
5. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millàn JS, Gamble V, Harris PC (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet 10:151-160.
6. International PKD Consortium (1995) Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81:289-298.
7. Peissel B, Rossetti S, Renieri A, Galli L, De Marchi M, Battini G, Meroni M, Sessa A, Schiavano S, Pignatti PF, Turco AE (1994) A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5. Hum Mutat 3:386-390.