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(2016)
摘要
a University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK b Cardiovascular and Cell Sciences Institute, St Georgeu0027s University of London, Cranmer Terrace, London, UK c Dept. of Neurology, Atkinson Morley Neuroscience Centre, St. Georgeu0027s University Hospital NHS Foundation Trust, London, UK d Division of Genetics and Molecular Medicine, Kingu0027s College London, Guyu0027s Hospital, Great Maze Pond, London, UK e Imperial College Royal Brompton and Harefield NHS Foundation Trust, London, UK f Institute of Child Health, University College London, London, UK g Stroke and Dementia Research Centre, St Georges University of London, London, UK h Department of Cardiology, St Georgeu0027s University Hospital NHS Foundation Trust, London, UK
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关键词
Exome,Cardiomyopathy,PNPLA2,NLSD-M,ATGL,Muscle
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