𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Effects of a Novel Cav1.1-R1242G Mutation Leading to Hypokalemic Periodic Paralysis

✍ Scribed by Fan, Chunxiang; Lehmann-Horn, Frank; Jurkat-Rott, Karin


Book ID
122531194
Publisher
Biophysical Society
Year
2013
Tongue
English
Weight
115 KB
Volume
104
Category
Article
ISSN
0006-3495

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of mutations in the CACNL
✍ SillΓ©n, Anna; SΓΈrensen, Troels; Kantola, Ilkka; Friis, Mogens Laue; Gustavson, K πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 136 KB πŸ‘ 3 views

Familial hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder characterised by episodic attacks of paralysis of varying severity. Recently, linkage was found to markers in 1q31-32 and to the gene encoding the muscle DHP-sensitive calcium channel ␣ 1-subunit (CACNL1A3). Subsequen

The R71G BRCA1 is a founder Spanish muta
✍ Ana Vega; Berta Campos; Brigitte Bressac-de-Paillerets; Patricia M. Bond; Nicola πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 266 KB πŸ‘ 1 views

In a BRCA1 screening in familial breast cancer carried out in different centres in Spain, France, and United Kingdom, a missense mutation 330A>G which results in a Arg to Gly change at codon 71 (R71G) was independently identified in 6 families, all of them with Spanish ancestors. This residue coinci