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Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1)

✍ Scribed by R. Perrichot; B. Mercier; A. Carre; J. Cledes; C. Ferec

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 10 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200006)15:6<582::aid-humu20>3.0.co;2-b

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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