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https://www.c-r-y.org.uk/whole-exome-sequence-analysis-reveals-homozygous-mutation-pnpla2-cause-severe-dilated-cardiomyopathy-secondary-neutral-lipid-storage-disease/
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease