Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

doi:10.1093/hmg/4.4.569

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Article

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

Human molecular genetics - 1 Apr 1995

Peral B, Gamble V, San Millán J L, Strong C, Sloane-Stanley J, Moreno F, Harris P C

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease which frequently results in renal failure. The major ADPKD gene, polycystic kidney disease 1 (PKD1), has recently been identified. In an attempt to understand better the aetiology of this disorder we have searched fo...

Topics

Adult
Aged
Base Sequence
DNA, Complementary
Humans
Introns
Middle Aged
Molecular Sequence Data
Phenotype
Polycystic Kidney, Autosomal Dominant
RNA Splicing
Sequence Deletion

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