Nebulin (NEB) mutations in a childhood onset distal...

European Journal of Human Genetics 2013 / 11 Vol. 21; Iss. 11

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Scoto, Mariacristina, Cullup, Thomas, Cirak, Sebahattin, Yau, Shu, Manzur, Adnan Y, Feng, Lucy, Jacques, Thomas S, Anderson, Glenn, Abbs, Stephen, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco
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Volume:
21
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2013.31
Date:
November, 2013
File:
PDF, 842 KB
english, 2013
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