𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease

✍ Scribed by Y-C Tan; J Blumenfeld; A Michaeel; S Donahue; M Balina; T Parker; D Levine; H Rennert

Book ID
110889159
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
778 KB
Volume
80
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Novel splicing and missense mutations in
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: Expression of mutated genes
✍ Gianluca Aguiari; Simone Savelli; Monica Garbo; Angela Bozza; Giuseppina Augello πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 73 KB πŸ‘ 2 views

## 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

Four novel mutations of the PKD2 gene in
Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease
✍ J. ReiterovΓ‘; J. Ε tekrovΓ‘; D.J.M. Peters; J. Kapras; M. KohoutovΓ‘; M. Merta; J. πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 154 KB

## Communicated by Mark H. Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for approximately 15% of the cases of the disease. We have screened 14 Cze