Novel SNP array analysis and exome sequencing detect a...

Neuromuscular Disorders 2013 / 06 Vol. 23; Iss. 6

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M., Fajardo, Karin Fuentes, Cherukuri, Praveen F., Bajraktari, Ilda, Meilleur, Katy G., Do
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Volume:
23
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2013.01.013
Date:
June, 2013
File:
PDF, 1.05 MB
english, 2013
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