Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

It is estimated that approximately 15% of families with autosomal dominant polycystic kidney disease (ADPKD) have mutations in PKD2. Identification of these mutations is central to identifying functionally important regions of gene and to understanding the mechanisms underlying the pathogenesis of t...

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Veröffentlicht in:	Journal of the American Society of Nephrology 1999-11, Vol.10 (11), p.2342-2351
Hauptverfasser:	REYNOLDS, D. M, HAYASHI, T, FOSSDAL, R, COTO, E, GUANQINGWU, BREUNING, M. H, GERMINO, G. G, PETERS, D. J. M, SOMLO, S, YIQIANG CAI, VELDHUISEN, B, WATNICK, T. J, LENS, X. M, MOCHIZUKI, T, QIAN, F, MAEDA, Y, LI LI
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Humans Kidneys Medical sciences Membrane Proteins - genetics Mutation Nephrology. Urinary tract diseases Polycystic Kidney, Autosomal Dominant - genetics Polymorphism, Genetic Reverse Transcriptase Polymerase Chain Reaction RNA Splicing TRPP Cation Channels Tumors of the urinary system
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