A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family

Biochemical and Biophysical Research Communications

Volumn 332, Issue 4, 2005, Pages 1115-1121

  Zhadanov, Sergey I ^a,b,f   Atamanov, Vasily V ^c   Zhadanov, Nikolay I ^d   Oleinikov, Oleg V ^e   Osipova, Ludmila P ^b   Schurr, Theodore G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

^c S FYODOROV EYE MICROSURGERY FEDERAL STATE INSTITUTION   (Russian Federation)

^d Dovolnoe District Hospital   (Russian Federation)

^e Municipal Narcological Clinic   (Russian Federation)

^f THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Complex I; Eye disorders; Leber's hereditary optic neuropathy; mtDNA

Indexed keywords

MITOCHONDRIAL DNA; POLYPEPTIDE;

ADOLESCENT; ARTICLE; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; CONFORMATIONAL TRANSITION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; HAPLOTYPES; HUMANS; LEUCINE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN CONFORMATION; PROTEIN STRUCTURE, SECONDARY; SPECIES SPECIFICITY;

EID: 20444366921     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.05.059     Document Type: Article

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