Browsing by Author "Türkmen, Selda"

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A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing

Alagöz, Meryem; Kherad, Nasim; Türkmen, Selda; Bulut, Hatice; Yüksel, Adnan (Spandidos Publications, 09.04.2020)

Abstract. The condition 3-methylglutaconic aciduria (3-MGA) with deafness, encephalopathy and Leigh-like (MEGDEL) syndrome, also known as 3-MGA IV, is one of a group of five rare metabolic disorders characterized by ...