Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis

Mitochondrion

Volumn 6, Issue 1, 2006, Pages 29-36

  Ueki, Isao ^a   Koga, Yasutoshi ^a   Povalko, Nataliya ^a,b   Akita, Yukihiro ^a   Nishioka, Junko ^a   Yatsuga, Shuichi ^a   Fukiyama, Ryo ^a   Matsuishi, Toyojiro ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

Author keywords

Lactic acidosis; Mitochondrial tRNA gene; Point mutation

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ARGININE; CYTOCHROME C OXIDASE; GUANINE; LACTIC ACID; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; PYRUVATE DEHYDROGENASE COMPLEX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA; TYROSINE; RNA; RNA, MITOCHONDRIAL;

ADOLESCENT; ADULT; ARTICLE; AUTOMATION; CARDIOMYOPATHY; CEREBELLAR ATAXIA; CEREBRAL PALSY; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FAMILIAL DISEASE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC RISK; HUMAN; HUMAN CELL; INFANT; LACTIC ACIDOSIS; LEG MUSCLE; LEIGH DISEASE; MALE; MELAS SYNDROME; MENTAL DEFICIENCY; MERRF SYNDROME; MITOCHONDRIAL GENETICS; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REYE SYNDROME; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; ELECTRON TRANSPORT; ENZYMOLOGY; GENE; GENETICS; PRESCHOOL CHILD;

ATAXIA;

ACIDOSIS, LACTIC; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT; FEMALE; GENES; HUMANS; INFANT; MALE; MITOCHONDRIAL DISEASES; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRUVATE DEHYDROGENASE COMPLEX; RNA; RNA, TRANSFER; SEQUENCE ANALYSIS, DNA;

EID: 33646675840     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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