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Novel Mutations in Familial Dilated Cardiomyopathy Identified by Whole Exome Sequencing

✍ Scribed by Tadros, R.; Chami, N.; Beaudoin, M.; Lo, K.; Robb, L.; Lemarbre, F.; Talajic, M.; Lettre, G.


Book ID
122721989
Publisher
Pulsus Group Inc
Year
2013
Tongue
English
Weight
204 KB
Volume
29
Category
Article
ISSN
0828-282X

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Exome sequencing identifies MRPL3 mutati
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By combining exome sequencing in conjunction with genetic mapping, we have identified the first mutation in large mitochondrial ribosomal protein MRPL3 in a family of four sibs with hypertrophic cardiomyopathy, psychomotor retardation, and multiple respiratory chain deficiency. Affected sibs were co