Comprehensive molecular diagnosis of mitochondrial disorders: Qualitative and quantitative approach

Annals of the New York Academy of Sciences

Volumn 1011, Issue , 2004, Pages 246-258

  Wong, Lee Jun C ^a  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Mitochondria; Mitochondrial disorder; Molecular diagnosis; mtDNA deletion; mtDNA mutations

Indexed keywords

ADENINE NUCLEOTIDE; GUANINE NUCLEOTIDE; MITOCHONDRIAL DNA; PYRIMIDINE NUCLEOTIDE; THYMIDINE PHOSPHORYLASE;

AMINO ACID SUBSTITUTION; CELL ENERGY; CLINICAL FEATURE; CONFERENCE PAPER; DELETION MUTANT; DIAGNOSTIC APPROACH ROUTE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA CONTENT; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HETEROPLASMY; HUMAN; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL GENETICS; MITOCHONDRIAL RESPIRATION; MUTATIONAL ANALYSIS; NARP SYNDROME; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; POLYMERASE CHAIN REACTION; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY CHAIN; SCREENING TEST; SOUTHERN BLOTTING;

EID: 2342485638     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1293.024     Document Type: Conference Paper

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