✦ LIBER ✦

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease

✍ Scribed by G. V. Z. Dedoussis; Y. Luo; P. Starremans; S. Rossetti; A. J. Ramos; H. F. Cantiello; E. Katsareli; P. Ziroyannis; K. Lamnissou; P. C. Harris; J. Zhou

Book ID: 108713602
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 710 KB
Volume: 38
Category: Article
ISSN: 0014-2972
DOI: 10.1111/j.1365-2362.2007.01913.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel method for genomic analysis of PKD

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease

✍ Ying-Cai Tan; Jon D. Blumenfeld; Raluca Anghel; Stephanie Donahue; Rimma Belenka 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB

Putative mutation of PKD1 gene responsib

Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family

✍ Jing Li; Chaowen Yu; Ye Tao; Yuan Yang; Zhangxue Hu; Sizhong Zhang 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 247 KB

Aberrant PKD2 splicing due to a presumed

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

✍ Y-C Tan; J Blumenfeld; A Michaeel; S Donahue; M Balina; T Parker; D Levine; H Re 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 778 KB

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 📂 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

Autosomal dominant polycystic kidney dis

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication

✍ Torra, Roser; Badenas, Cèlia; Darnell, Alejandro; Brú, Concepció; Escorsell, Ang 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 622 KB

Novel PKD1 deletions and missense varian

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

✍ Bouba, Ioanna; Koptides, Michael; Mean, Richard; Costi, Constandina-Eleni; Demet 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 188 KB