Konu "IVD gene" için Scopus İndeksli Yayınlar Koleksiyonu listeleme
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Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
(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 ...