Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1).
Perrichot
R
R
Laboratoire de génétique moléculaire, ETSBO and service de néphrologie, CHU Brest, France.
Mercier
B
B
Carre
A
A
Cledes
J
J
Ferec
C
C
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*
D005973:Glutamine; D011506:Proteins; D050396:TRPP Cation Channels; D014443:Tyrosine