Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree

Ophthalmic Genetics

Volumn 28, Issue 1, 2007, Pages 1-7

  Fingert, John H ^a   Grassi, Michael A ^a,d   Janutka, Josesph C ^a   East, Jade S ^a   Howard, James G ^a   Sheffield, Val C ^a,b   Jacobson, Dan M ^c   Hayreh, Sohan S ^a   Stone, Edwin M ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c MARSHFIELD CLINIC   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

Author keywords

Familial; G4132 mitochondrial variant; NA AION; Non arteritic anterior ischemic optic neuropathy

Indexed keywords

GLYCINE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ADULT; ARTICLE; CLINICAL EXAMINATION; DNA SEQUENCE; FAMILIAL DISEASE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; ISCHEMIC OPTIC NEUROPATHY; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; NADH DEHYDROGENASE; OPTIC NEUROPATHY, ISCHEMIC; PEDIGREE; PEPTIDE FRAGMENTS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 34147129083     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701199399     Document Type: Article

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