Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients

European Journal of Human Genetics

Volumn 11, Issue 1, 2003, Pages 102-104

  Kocaefi, Y Çetin ^a   Erdem, Sevim ^a   Özgüç, Meral ^a   Tan, Ersin ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Gliostatin; Mitochondrial myopahty; MNGIE; mtDNA deletions; Thymidine phosphorylase

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; THYMIDINE PHOSPHORYLASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; GENE DELETION; GENE MUTATION; HUMAN; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; DNA, MITOCHONDRIAL; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ANALYSIS, DNA; SYNDROME; THYMIDINE PHOSPHORYLASE; TURKEY;

EID: 0037265642     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200908     Document Type: Article

References (10)

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