Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

Beiras Iglesias, Andrés; Castro Gago, Manuel; Pintos Martínez, Elena; Dacruz Álvarez, David
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URI: http://hdl.handle.net/20.500.11940/4531
PMID: 24997086
ISSN: 1090-3798
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Date issued
2014
Journal title
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
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Artigo