Novel missense mutation p.A310P in the GNE gene in...

Neuromuscular Disorders 2010 Vol. 20; Iss. 5

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

Andrea Stober, Angelo Aleo, Valerio Kuhl, Antje Bornemann, Maggie C. Walter, Hanns Lochmüller, Alfred Lindner, Sabine Krause
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Volume:
20
Year:
2010
Language:
english
DOI:
10.1016/j.nmd.2010.02.013
File:
PDF, 200 KB
english, 2010
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