title: Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1).
authors.affiliation: Laboratoire de génétique moléculaire, ETSBO and service de néphrologie, CHU Brest, France.
authors.forename: R
authors.initials: R
authors.lastname: Perrichot
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: A
authors.initials: A
authors.lastname: Carre
authors.forename: J
authors.initials: J
authors.lastname: Cledes
authors.forename: C
authors.initials: C
authors.lastname: Ferec
mesh_terms: D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels; D014443:Tyrosine / Q000235:genetics*
chemical_list: D005973:Glutamine; D011506:Proteins; D050396:TRPP Cation Channels; D014443:Tyrosine