Associated Papers
Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
Gonzalez-Paredes FJ et al.
Gene, 2014
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
Symmons O et al.
Molecular Biology and Evolution, 2008
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Watnick TJ et al.
Human Molecular Genetics, 1997
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