A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNAVal mutation

Biochemical and Biophysical Research Communications

Volumn 407, Issue 4, 2011, Pages 747-752

  Mezghani, Najla ^a   Mnif, Mouna ^b   Kacem, Maha ^c   Mkaouar Rebai, Emna ^a   Hadj Salem, Ikhlass ^a   Kallel, Nozha ^b   charfi, Nadia ^b   Abid, Mohamed ^b   fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

^c CHU Fattouma Bourguiba de Monastir   (Tunisia)

Author keywords

M.3243A>G; MELAS syndrome; Mitochondrial mutations; TRNAVal gene

Indexed keywords

ADENINE; DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; PROPOLYMERASE GAMMA 1; UNCLASSIFIED DRUG; VALINE TRANSFER RNA;

ANTICODON; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; DNA STRUCTURE; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; MELAS SYNDROME; MITOCHONDRIAL GENOME; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PATHOGENICITY; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RETINITIS PIGMENTOSA; SEIZURE; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS;

DNA-DIRECTED DNA POLYMERASE; FEMALE; GENOME, MITOCHONDRIAL; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MELAS SYNDROME; MUTATION; PEDIGREE; RNA; RNA, TRANSFER, VAL; SEQUENCE DELETION;

EID: 79954988184     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.03.094     Document Type: Article

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