Three novel mutations of thePKD1 gene in Italian families with autosomal dominant polycystic kidney disease

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

Jim R. Hughes, Christopher J. Ward, Belén Peral et al. · Nature Genetics · 1995 · 916 citations

Medicine, Molecular Biology, Molecular Genetics +8

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16

The European Polycystic Kidney Dise · Cell · 1994 · 902 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

Cell · 1995 · 619 citations · Full text

Medicine, Genetics, Molecular Genetics +12

A suggested nomenclature for designating mutations

Arthur L. Beaudet, Lap‐Chee Tsui · Human Mutation · 1993 · 311 citations

Life Sciences, Genetics, Molecular Genetics +10

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

Martin Daoust, David M. Reynolds, Daniel G. Bichet et al. · Genomics · 1995 · 270 citations

Medicine, Genetics, Molecular Genetics +12