Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis

American Journal of Medical Genetics

Volumn 130 A, Issue 2, 2004, Pages 134-137

  Shanske, Sara ^a   Pancrudo, Jacklyn ^a   Kaufmann, Petra ^a   Engelstad, Kristin ^a   Jhung, Sarah ^a   Lu, Jiesheng ^a   Naini, Ali ^a   DiMauro, Salvatore ^a   De Vivo, Darryl C ^a  

^a College of Physicians and Surgeons ^*  (United States)

Author keywords

A3243G; Accessible tissues; Diagnosis; MELAS; mtDNA; Mutation load

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CHEEK MUCOSA; CONTROLLED STUDY; HAIR ROOT; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; MAJOR CLINICAL STUDY; MELAS SYNDROME; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN FIBROBLAST; URINE SEDIMENT;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; FIBROBLASTS; HAIR; HUMANS; MALE; MELAS SYNDROME; MUCOUS MEMBRANE; PEDIGREE; POINT MUTATION;

EID: 4644269393     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30220     Document Type: Article

References (14)

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