Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology

Clinical Biochemistry

Volumn 37, Issue 4, 2004, Pages 268-276

  Mashima, Yukihiko ^a   Nagano, Makoto ^b   Funayama, Tomoyo ^a   Zhang, Qiang ^a   Egashira, Tohru ^b   Kudho, Jun ^a   Shimizu, Nobuyoshi ^a   Oguchi, Yoshihisa ^a  

^a KEIO UNIVERSITY   (Japan)

^b BML   (Japan)

Author keywords

G11778A mutation; G3460A mutation; Heteroplasmy; Invader technology; Leber's hereditary optic neuropathy; Mitochondrial DNA; T14484CA mutation

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BIOASSAY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; FLUORESCENCE; GENE MUTATION; GENOTYPE; HETEROPLASMY; HUMAN; INCUBATION TIME; INSTRUMENTATION; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELIABILITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; TECHNOLOGY;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HUMANS; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 1542346402     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2003.11.011     Document Type: Article

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