Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations

Journal of Medical Genetics

Volumn 45, Issue 1, 2008, Pages 55-61

  Tuppen, H A L ^a   Fattori, F ^b   Carrozzo, R ^b   Zeviani, M ^c   DiMauro, S ^d   Seneca, S ^e   Martindale, J E ^f   Olpin, S E ^f   Treacy, E P ^g   McFarland, R ^a   Santorelli, F M ^b   Taylor, R W ^a,g  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d NewYork Presbyterian Hospital   (United States)

^e UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^g CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; TRANSFER RNA; RNA; RNA, MITOCHONDRIAL; THREONINE TRANSFER RNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MITOCHONDRIAL DNA DISORDER; PRIORITY JOURNAL; PROTEIN SYNTHESIS; STEADY STATE; BIOPSY; CELL CULTURE; CHILD; CYTOLOGY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETIC POLYMORPHISM; GENETICS; HEART MITOCHONDRION; INFANT; MUSCLE MITOCHONDRION; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; SKELETAL MUSCLE; SKIN;

ADULT; BIOPSY; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; HUMANS; INFANT; MALE; MITOCHONDRIA, HEART; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; POLYMORPHISM, GENETIC; RNA; RNA, TRANSFER, THR; SKIN;

EID: 38349116200     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.051185     Document Type: Article

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