Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1095-1102

  Rinaldi, Carlo ^a   Grunseich, Christopher ^a   Sevrioukova, Irina F ^b   Schindler, Alice ^a   Horkayne Szakaly, Iren ^c   Lamperti, Costanza ^d   Landouré, Guida ^a,e   Kennerson, Marina L ^f,g   Burnett, Barrington G ^a   Bönnemann, Carsten ^a   Biesecker, Leslie G ^h   Ghezzi, Daniele ^d   Zeviani, Massimo ^d   Fischbeck, Kenneth H ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c JOINT PATHOLOGY CENTER   (United States)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e Centre Hospitalier Universitaire du Point G Bamako   (Mali)

^f UNIVERSITY OF SYDNEY   (Australia)

^g Department of Microbiology and Infectious Diseases   (Australia)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOPTOSIS INDUCING FACTOR; APOPTOSIS INDUCING FACTOR MITOCHONDRION ASSOCIATED 1; CASPASE; FLAVINE ADENINE NUCLEOTIDE; FLAVOPROTEIN; GLUTAMINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; APOPTOSIS; ARTICLE; CELL DEATH; CHROMOSOME XQ; COGNITIVE DEFECT; CONTROLLED STUDY; COWCHOCK SYNDROME; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MITOCHONDRIAL ENCEPHALOPATHY; MITOCHONDRIAL MEMBRANE; MUSCLE BIOPSY; NEUROPATHY; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CLEAVAGE; REDOX STRESS; RESPIRATORY CHAIN; SKELETAL MUSCLE; X CHROMOSOME RECESSIVE DISORDER;

APOPTOSIS; APOPTOSIS INDUCING FACTOR; BASE SEQUENCE; BRAIN; CELL NUCLEUS; CHARCOT-MARIE-TOOTH DISEASE; EXONS; HEARING LOSS, SENSORINEURAL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION, X-LINKED; MITOCHONDRIA; MODELS, MOLECULAR; MUSCLE, SKELETAL; MUTATION; NEUROIMAGING; OXIDATION-REDUCTION; PEDIGREE; PROTEIN CONFORMATION; PROTEIN TRANSPORT;

EID: 84870926172     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.008     Document Type: Article

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