✦ LIBER ✦

A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel

✍ Scribed by Linggen Gao; Linping Wang; Yaxin Liu; Xianliang Zhou; Rutai Hui; Aihua Hu

Book ID: 118478086
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 270 KB
Volume: 162
Category: Article
ISSN: 1097-6833
DOI: 10.1016/j.jpeds.2012.06.017

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Liddle syndrome caused by P616R mutation

Liddle syndrome caused by P616R mutation of the epithelial sodium channel β subunit

✍ Andrzej Ciechanowicz; Zdenek Dolezel; Grzegorz Placha; Jiri Starha; Jarosław Gór 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 144 KB

Liddle's syndrome: heritable human hyper

Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel

✍ Richard A. Shimkets; David G. Warnock; Christopher M. Bositis; Carol Nelson-Will 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 114 KB

A novel spice–site mutation in the γ sub

A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

✍ Strautnieks, Sandra S.; Thompson, Richard J.; Gardiner, R. Mark; Chung, Eddie 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 384 KB

A novel missense (E163G) mutation in the

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia

✍ Heiko Wiebusch; Harald Funke; René Santer; Werner Richter; Gerd Assmann 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB 👁 2 views

Lipoprotein lipase (LPL) catalyzes the hydrolysis of the core triacylglycerols of plasma very low density lipoproteins (VLDL) and chylomicrons (Brunzell, 1995). It thus controls a crucial step in the metabolism of triglycerides of exogenous and endogenous origin. Inherited LPL deficiency is clinica

A novel missense mutation of the CYLD ge

A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome

✍ Nagy, Nikoletta; Farkas, Katalin; Kinyo, Ágnes; Nemeth, Istvan B.; Kis, Erika; V 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 645 KB

Novel SCN1A mutation in the IFMT motif o

Novel SCN1A mutation in the IFMT motif of the α1 subunit of the voltage-gated NaV1.1 channel causing familial hemiplegic migraine

✍ De Vries, B; Weller, CM; De Fàbregues, O; Koelewijn, SC; Stam, AH; Haan, J; Ferr 📂 Article 📅 2013 🏛 Springer 🌐 English ⚖ 54 KB