Identification of a novel PKD1 mutation in an Irish autosomal dominant polycystic kidney disease kindred.
Department of Biochemistry, Royal College of Surgeons, Ireland.
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D002874:Chromosome Mapping; D005091:Exons; D008040:Genetic Linkage; D006801:Humans; D007438:Introns; D007494:Ireland; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D050396:TRPP Cation Channels
D011506:Proteins; D050396:TRPP Cation Channels