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Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

Rıza Koksal Ozgul1, Mehmet Karaca2, Mustafa Kilic3

  • 1Hacettepe University, Faculty of Medicine, Department of Pediatrics, Metabolism Unit, Ankara, Turkey; Hacettepe University, Institute of Child Health, Ankara, Turkey.

European Journal of Medical Genetics
|September 16, 2014
PubMed

Keywords:
Genotype–phenotype correlationIVD geneIsovaleric acidemiaMutation screening

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