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Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease

✍ Scribed by Gonzalez-Paredes, Francisco J.; Ramos-Trujillo, Elena; Claverie-Martin, Felix

Book ID: 124137940
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 702 KB
Volume: 546
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2014.06.004

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## Communicated by Michel Goossens Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By heteroduplex a