The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

Brain

Volumn 124, Issue 1, 2001, Pages 209-218

  Chinnery, P F ^a,f   Brown, D T ^a   Andrews, R M ^a   Singh Kler, R ^a   Riordan Eva, P ^b   Lindley, J ^c   Applegarth, D A ^d   Turnbull, D M ^a   Howell, N ^e  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c ST PAUL S HOSPITAL   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Heteroplasmy; Leber's hereditary optic neuropathy; Mitochondrial diseases; Mitochondrial DNA (mtDNA); Optic atrophy

Indexed keywords

MITOCHONDRIAL DNA; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; UBIQUINONE;

ADULT; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOME; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; OPTIC NERVE DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

EID: 0035182136     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/124.1.209     Document Type: Article

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