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Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.

Muggenthaler, M; Petropoulou, E; Omer, S; Simpson, MA; Sahak, H; Rice, A; Raju, H; Conti, FJ; Bridges, LR; Anderson, LJ; et al. Muggenthaler, M; Petropoulou, E; Omer, S; Simpson, MA; Sahak, H; Rice, A; Raju, H; Conti, FJ; Bridges, LR; Anderson, LJ; Sharma, S; Behr, ER; Jamshidi, Y (2016) Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. International Journal of Cardiology, 210. pp. 41-44. https://doi.org/10.1016/j.ijcard.2016.02.082
SGUL Authors: Behr, Elijah Raphael Jamshidi, Yalda Raju, Hariharan Sharma, Sanjay

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Item Type: Article
Additional Information: © 2016 Elsevier Ireland Ltd. All rights reserved.
Keywords: ATGL, Cardiomyopathy, Exome, Muscle, NLSD-M, PNPLA2, Cardiovascular System & Hematology, 1102 Cardiovascular Medicine And Haematology
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cardiac (INCCCA)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: International Journal of Cardiology
Language: ENG
Dates:
DateEvent
13 February 2016Published
Publisher License: Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0
Projects:
Project IDFunderFunder ID
UNSPECIFIEDSt. George's, University of Londonhttp://dx.doi.org/10.13039/501100004337
UNSPECIFIEDNational Institute for Health Researchhttp://dx.doi.org/10.13039/501100000272
PubMed ID: 26922712
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/107736
Publisher's version: https://doi.org/10.1016/j.ijcard.2016.02.082

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