Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family

Molecular Genetics and Metabolism

Volumn 96, Issue 2, 2009, Pages 59-65

  Wang, Jing ^a   Brautbar, Ariel ^a   Chan, Alicia K ^b   Dzwiniel, Tara ^b   Li, Fang yuan ^a   Waters, Paula J ^c   Graham, Brett H ^a   Wong, Lee Jun ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

12297T>C; 14487T>C; Leigh syndrome; Mitochondrial disease; mtDNA

Indexed keywords

LEUCINE; MITOCHONDRIAL DNA; RNA;

ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; FAMILY; FEMALE; GENOME; GENOME ANALYSIS; HAIR FOLLICLE; HETEROPLASMY; HUMAN; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; MOUTH CAVITY; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEQUENCE ANALYSIS; URINE SEDIMENT;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DNA PRIMERS; DNA PROBES; DNA, MITOCHONDRIAL; FEMALE; HUMANS; LEIGH DISEASE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 58149500273     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.10.006     Document Type: Article

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