Molecular diagnostics of mitochondrial disorders

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Molecular diagnostics of mitochondrial disorders.

The mitochondrial respiratory chain (RC) results from the expression of both mitochondrial and nuclear genes. The number of disease-causing mutations in nuclear genes is steadily growing and mitochondrial DNA (mtDNA) deletions and mutations account for no more than 15-20% of pediatric patients. Unfortunately, the disease-causing mutations have been identified for only a small number of patients...

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ژورنال

عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Bioenergetics

سال: 2004

ISSN: 0005-2728

DOI: 10.1016/j.bbabio.2004.07.007