Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes...

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Udgivet i:Eur J Hum Genet
Main Authors: Lahrouchi, Najim, Lodder, Elisabeth M, Mansouri, Maria, Tadros, Rafik, Zniber, Layla, Adadi, Najlae, Clur, Sally-Ann B, van Spaendonck-Zwarts, Karin Y, Postma, Alex V, Sefiani, Abdelaziz, Ratbi, Ilham, Bezzina, Connie R
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477358/
https://ncbi.nlm.nih.gov/pubmed/28295041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.22
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