These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
13. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. Chen J; Ma N; Zhao X; Li W; Zhang Q; Yuan S; Tan YQ; Lu G; Lin G; Du J J Hum Genet; 2019 Mar; 64(3):207-214. PubMed ID: 30617278 [TBL] [Abstract][Full Text] [Related]
14. Transcriptional complexity in autosomal recessive polycystic kidney disease. Frank V; Zerres K; Bergmann C Clin J Am Soc Nephrol; 2014 Oct; 9(10):1729-36. PubMed ID: 25104275 [TBL] [Abstract][Full Text] [Related]
15. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Onuchic LF; Furu L; Nagasawa Y; Hou X; Eggermann T; Ren Z; Bergmann C; Senderek J; Esquivel E; Zeltner R; Rudnik-Schöneborn S; Mrug M; Sweeney W; Avner ED; Zerres K; Guay-Woodford LM; Somlo S; Germino GG Am J Hum Genet; 2002 May; 70(5):1305-17. PubMed ID: 11898128 [TBL] [Abstract][Full Text] [Related]