Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference32 articles.
1. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy;Agarwal;J Clin Endocrinol Metab,2003
2. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-O-acyltransferase-2 deficiency;Antuna-Puente;J Clin Endocrinol Metab,2010
3. Caveolae, ion channels and cardiac arrhythmias;Balijepalli;Prog Biophys Mol Biol,2008
4. Localization of cardiac L-type Ca(2+) channels to a caveolar macromolecular signaling complex is required for beta(2)-adrenergic regulation;Balijepalli;Proc Natl Acad Sci USA,2006
5. Localization of f-channels to caveolae mediates specific beta2-adrenergic receptor modulation of rate in sinoatrial myocytes;Barbuti;J Mol Cell Cardiol,2007
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