Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

American Journal of Human Genetics

Volumn 93, Issue 3, 2013, Pages 471-481

  Bonnen, Penelope E ^a   Yarham, John W ^b   Besse, Arnaud ^a   Wu, Ping ^a   Faqeih, Eissa A ^c   Al Asmari, Ali Mohammad ^c   Saleh, Mohammad A M ^c   Eyaid, Wafaa ^d   Hadeel, Alrukban ^d   He, Langping ^b   Smith, Frances ^e   Yau, Shu ^e   Simcox, Eve M ^b   Miwa, Satomi ^f   Donti, Taraka ^a   Abu Amero, Khaled K ^g   Wong, Lee Jun ^a   Craigen, William J ^a   Graham, Brett H ^a   Scott, Kenneth L ^a   McFarland, Robert ^b   Taylor, Robert W ^b   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

^d KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^e GUY S HOSPITAL   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BRAIN DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; FBXL4 GENE; FIBROBLAST; GENE; GENE DOSAGE; GENE LOCATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL ENCEPHALOPATHY; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SEQUENCE ALIGNMENT; SKELETAL MUSCLE;

ACIDOSIS, LACTIC; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME SEGREGATION; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; F-BOX PROTEINS; FEMALE; FIBROBLASTS; GENE DOSAGE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; OXIDATIVE PHOSPHORYLATION; PEDIGREE; PROTEIN TRANSPORT; UBIQUITIN-PROTEIN LIGASES;

EID: 84883810020     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.07.017     Document Type: Article

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