Yazar "Akyol, Mehmet Bedir" için listeleme
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A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case
Ersoy, Melike; Akyol, Mehmet Bedir; Ceylaner, Serdar; Biçer Çakır, Nihan (Wiley, 2017)Key Clinical Message We evaluate the clinical findings and the treatment response of a late-diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene. Both ...
