Yazar "Karaca, Mehmet" için Çocuk Sağlığı ve Hastalıkları Anabilim Dalı listeleme
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Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
Ozgul, Riza Koksal; Karaca, Mehmet; Kilic, Mustafa; Kucuk, Ozgul; Yucel-Yilmaz, Didem; Unal, Ozlem; Dursun, Ali (Elsevier, 2014)We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients ...