DETECTION OF DISEASE MUTATIONS IN THE PKD1 GENE, AND GENOTYPE-PHENOTYPE CORRELATIONS IN A LARGE COLECTION OF FAMILIES WITH AUTOSOMAL DOMINANT POLYCISTIC KIDNEY DISEASE TYPE 1 (ADPKD1)

Pubblicazioni Scientifiche

• 1996 AMERICAN JOURNAL OF KIDNEY DISEASES

  An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

• 1997 HUMAN MUTATION

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

• 1996 MOLECULAR AND CELLULAR PROBES

  A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)

• 1996 NEPHROLOGY DIALYSIS TRANSPLANTATION

  Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease

• 1996 AMERICAN JOURNAL OF MEDICAL GENETICS

  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

• 1997 MOLECULAR AND CELLULAR PROBES

  Detection of mutations in human genes by a new rapid method: Cleavage fragment length polymorphism analysis (CFLPA)