Identification of a novel single nucleotide polymorphism HADHA gene in an Iranian patient with Mitochondrial Trifunctional Protein Deficiency

سال انتشار: 1394
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 501

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شناسه ملی سند علمی:

NCNCMB02_300

تاریخ نمایه سازی: 12 تیر 1395

چکیده مقاله:

Mitochondrial Trifunctional Protein deficiency is an autosomal recessive disorder due to the defect in the β-oxidation cycle of long-chain fatty acids. M-TFP deficiency are classified into 2 phenotypes: the more prevalent isolated LCHAD deficiency with defects of the α-subunits encoded by the HADHA (hydroxyacyl-CoA dehydrogenase α-subunit) gene and the less common pattern of complete M-TFP deficiencywith defectbothof HADHA or HADHB (hydroxyacyl-CoA dehydrogenase ß-subunit) genes.

نویسندگان

Mahdiyeh Shahrokhi

Dept. of Genetics, Faculty of Science, ShahidChamran University, Ahvaz

Mohammad Shafiei

Dept. of Genetics, Faculty of Science, ShahidChamran University, Ahvaz, Iran

Hamid Galehdar

Dept. of Genetics, Faculty of Science, ShahidChamran University, Ahvaz, Iran

Gholamreza Shariati

Narges Medical Genetic Laboratory, Ahvaz, Iran