𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 Gene (PKD1) by a Novel Approach

✍ Scribed by Belén Peral; Vicki Gamble; Carol Strong; Albert C.M. Ong; Jackie Sloane-Stanley; Klaus Zerres; Christopher G. Winearls; Peter C. Harris


Book ID
117855131
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
497 KB
Volume
60
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel splicing and missense mutations in
✍ Gianluca Aguiari; Simone Savelli; Monica Garbo; Angela Bozza; Giuseppina Augello 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 73 KB 👁 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