title: Novel human pathological mutations. Gene symbol: PKD1. Disease: human autosomal dominant polycystic kidney disease.
authors: XiangYa school of medicine, Central South University, Institute of Reproductive and Stem Cell Engineering, XiangYastreet, 90, 410008 Changsha, PR China. lil@mail.csu.edu.cn
authors: Li
authors: L
authors: Li
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D006801:Humans; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D050396:TRPP Cation Channels