Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

Journal of Inherited Metabolic Disease

Volumn 22, Issue 8, 1999, Pages 899-914

  White, S L ^a   Shanske, S ^b   McGill, J J ^c   Mountain, H ^d   Geraghty, M T ^e   DiMauro, S ^b   Dahl, H H M ^a   Thorburn, D R ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b Columbia University ^*  (United States)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; ARGININE; LEUCINE; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; NUCLEOTIDE; PROLINE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

AGING; AMINO ACID SUBSTITUTION; ARTICLE; CHILD DEATH; CLINICAL FEATURE; GENE MUTATION; GENOTYPE; HUMAN; LEIGH DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PROTON TRANSPORT; TISSUE;

AGING; CELL LINE; DNA; DNA, MITOCHONDRIAL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; MUTATION; NUCLEOTIDES; ORGAN SPECIFICITY; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0032712903     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005639407166     Document Type: Article

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