نتایج جستجو برای: mitochondrial complex i

تعداد نتایج: 1850523  

2014
Mohammad Hossein Salehi Behnam Kamalidehghan Massoud Houshmand Goh Yong Meng Majid Sadeghizadeh Omid Aryani Shahriar Nafissi

Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein. The number of repeats correlates with disease severity, where impaired transcription of the FXN gene results in reduced expression of the frataxin protein....

Journal: :The American Journal of Human Genetics 2008

Journal: :Biochimica et Biophysica Acta (BBA) - Bioenergetics 2016

Journal: :Biochimica et Biophysica Acta (BBA) - Bioenergetics 2012

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