Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

Journal of Clinical Investigation

Volumn 111, Issue 12, 2003, Pages 1913-1921

  Nishigaki, Yutaka ^a   Martí, Ramon ^a   Copeland, William C ^b   Hirano, Michio ^a  

^a The New York Presbyterian Hospital   (United States)

^b NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DEOXYURIDINE; MITOCHONDRIAL DNA; THYMIDINE; THYMIDINE PHOSPHORYLASE; THYMINE; CYTOCHROME C OXIDASE;

5' AA SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; DISLOCATION MUTAGENESIS; DNA SEQUENCE; ENZYME DEFICIENCY; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYELOPATHY; MUTAGENESIS; NEXT NUCLEOTIDE EFFECT; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOSIDE METABOLISM; NUCLEOTIDE METABOLISM; POINT MUTATION; PRIORITY JOURNAL; SOMATIC MUTATION; THYMIDINE PHOSPHORYLASE DEFICIENCY; BIOLOGICAL MODEL; CELL CULTURE; ENZYMOLOGY; GASTROINTESTINAL DISEASE; GENETICS; METABOLISM; MITOCHONDRIAL ENCEPHALOMYOPATHY; NUCLEOTIDE SEQUENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

BASE SEQUENCE; CELLS, CULTURED; DEOXYURIDINE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; GASTROINTESTINAL DISEASES; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MODELS, GENETIC; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE DELETION; THYMIDINE PHOSPHORYLASE;

EID: 85047694201     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI17828     Document Type: Article

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