화학공학소재연구정보센터
검색결과 : 4건
No. Article
1 A novel mutation MT-COIII m.9267G > C and MT-COI m.5913G > A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy
Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F
Biochemical and Biophysical Research Communications, 459(3), 353, 2015
2 A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A > G and the ND1 m.3308T > C mutations associated with multiple mitochondrial deletions
Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Charfi N, Abid M, Fakhfakh F
Biochemical and Biophysical Research Communications, 431(4), 670, 2013
3 A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNA(Val) mutation
Mezghani N, Mnif M, Kacem M, Mkaouar-Rebai E, Salem IH, Kallel N, Charfi N, Abid M, Fakhfakh F
Biochemical and Biophysical Research Communications, 407(4), 747, 2011
4 The mitochondrial ND1 m.3337G > A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy
Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F
Biochemical and Biophysical Research Communications, 411(2), 247, 2011