Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene - Afzal, A.R.; Hand, M.; Ternes-Pereira, E.; Saggar-Malik, A.; Taylor, R.; Jeffery, S. (Human genetics, 1999)
Keywords: Amino Acid Sequence; Base Sequence; Biological and medical sciences; DNA Mutational Analysis; Exons; Female; Humans; Kidneys; Male; Malformations of the urinary system; Medical sciences; Molecular Sequence Data; Nephrology. Urinary tract diseases; Pedigree; Polycystic Kidney, Autosomal Dominant - genetics; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proteins - genetics; TRPP Cation Channels; Kidney disease; Case study; Human; Urinary system disease; Polycystic kidney; Cyst; Polycystin; Genetics; Benign neoplasm; Mutation; Genetic disease