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

Biochemical and Biophysical Research Communications

Volumn 431, Issue 4, 2013, Pages 670-674

  Mezghani, Najla ^a   Mnif, Mouna ^b   Mkaouar Rebai, Emna ^a   Kallel, Nozha ^b   Charfi, Nadia ^b   Abid, Mohamed ^b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

M.1555A>G; M.3308T>C; MIDD; Mitochondrial deletions

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE 1; RNA 12S; TRANSFER RNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; MALE; MATERNALLY INHERITED DIABETES AND DEAFNESS; MUSCLE BIOPSY; NON INSULIN DEPENDENT DIABETES MELLITUS; PATHOGENICITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADULT; AMINO ACID SEQUENCE; DEAFNESS; DIABETES MELLITUS, TYPE 2; DNA, MITOCHONDRIAL; HUMANS; LEUKOCYTES; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; RNA, RIBOSOMAL; SEQUENCE DELETION;

EID: 84875264975     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2013.01.063     Document Type: Article

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