✦ LIBER ✦

Identification and characterization of two new TTF-1 mutations associated with pediatric interstitial lung diseases

✍ Scribed by Guillot, L.; Carre, A.; Szinnai, G.; Tron, E.; Castanet, M.; Feldmann, D.; Clement, A.; Polak, M.; Epaud, R.

Book ID: 122619041
Publisher: Masson Editeur
Year: 2008
Tongue: French
Weight: 150 KB
Volume: 25
Category: Article
ISSN: 0761-8425
DOI: 10.1016/S0761-8425(08)75057-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of two new dominant ClC

Characterization of two new dominant ClC-1 channel mutations associated with myotonia

✍ Morten Grunnet; Thomas Jespersen; Eskild Colding-Jørgensen; Marianne Schwartz; D 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 393 KB

## Abstract Voltage‐gated ClC‐1 chloride channels encoded by the __CLCN1__ gene have a major role in setting the membrane potential in skeletal muscle. More than 60 __CLCN1__ mutations have been associated with myotonia congenita. These mutations are traditionally classified as recessive (Becker's

Exon 5 encoded domain is not required fo

Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two newSOD1mutations associated with familial amyotrophic lateral sclerosis

✍ James S. Zu; Han-Xiang Deng; Terence P. Lo; Hiroshi Mitsumoto; Mohamed S. Ahmed; 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 907 KB