Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: Shift towards mutant genotype and role of mtDNA copy number

Human Molecular Genetics

Volumn 5, Issue 2, 1996, Pages 197-205

  Bentlage, Herman A C M ^a,b   Attardi, Giuseppe ^a  

^a CALIFORNIA INSTITUTE OF TECHNOLOGY   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ARTICLE; CELL CULTURE; CELL FUSION; CELL LINE; CELL RESPIRATION; CELL TRANSFORMATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENCEPHALOMYOPATHY; FEMALE; FIBROBLAST; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; OXYGEN CONSUMPTION; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM;

CELL LINE; DNA, MITOCHONDRIAL; FIBROBLASTS; GENE DOSAGE; GENOTYPE; HUMANS; MELAS SYNDROME; MITOCHONDRIA; MUTATION; PEDIGREE; PHENOTYPE; RNA, TRANSFER, AMINO ACYL; TRANSFORMATION, GENETIC;

EID: 0030070924     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.2.197     Document Type: Article

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