Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10752327 | Biochemical and Biophysical Research Communications | 2015 | 8 Pages |
Abstract
The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population. The m.9267G>C mutation was present with a nonsynonymous inherited mitochondrial homoplasmic variation MT-COI m.5913 G>A (D4N) responsible of high blood pressure, a clinical feature detected in all explored patients.
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Authors
Mouna Tabebi, Emna Mkaouar-Rebai, Mouna Mnif, Fakhri Kallabi, Afif Ben Mahmoud, Wafa Ben Saad, Nadia Charfi, Leila Keskes-Ammar, Hassen Kamoun, Mohamed Abid, Faiza Fakhfakh,