Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations

Recently, the gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully characterized and shown to encode an integral membrane protein, polycystin, involved in cell-cell and/or cell-matrix interactions. Study of the PKD1...

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Veröffentlicht in:	American journal of human genetics 1996, Vol.58 (1), p.86-96
Hauptverfasser:	PERAL, B, SAN MILLAN, J. L, ONG, A. C. M, GAMBLE, V, WARD, C. J, STRONG, C, HARRIS, P. C
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing Base Sequence Biological and medical sciences DNA Primers Exons Female Frameshift Mutation Humans Introns Kidney Failure, Chronic - epidemiology Kidney Failure, Chronic - genetics Kidneys Male Malformations of the urinary system Medical sciences Middle Aged Molecular Sequence Data Mutation Nephrology. Urinary tract diseases Pedigree Point Mutation Polycystic Kidney, Autosomal Dominant - genetics Polymerase Chain Reaction Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Protein Biosynthesis Protein Structure, Secondary Proteins - chemistry Proteins - genetics Recombinant Proteins - biosynthesis Recombinant Proteins - chemistry Sequence Deletion TRPP Cation Channels
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