✦ LIBER ✦

Regional distribution of mutations of theATP7Bgene in patients with Wilson disease: impact on genetic testing

✍ Scribed by Peter Ferenci

Publisher: Springer
Year: 2006
Tongue: English
Weight: 403 KB
Volume: 120
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-006-0202-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations of theATP7Bgene in Japan

Novel mutations of theATP7Bgene in Japanese patients with Wilson disease

✍ Yoichiro Kusuda; Kazuyuki Hamaguchi; Tetsu Mori; Rie Shin; Masataka Seike; Toshi 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 98 KB

Comprehensive survey of mutations in RP2

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

✍ Valérie Pelletier; Marguerite Jambou; Nathalie Delphin; Elena Zinovieva; Morgane 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 447 KB

Communicated by Daniel F. Schorderet X-linked forms of retinitis pigmentosa (RP) (XLRP) account for 10 to 20% of families with RP and are mainly accounted for by mutations in the RP2 or RP GTPase regulator (RPGR) genes. We report the screening of these genes in a cohort of 127 French family comprisi