A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping

JAMA Neurology

Volumn 70, Issue 6, 2013, Pages 783-787

  Arif, Beenish ^a,b   Kumar, Kishore R ^a,e   Seibler, Philip ^a   Vulinovic, Franca ^a   Fatima, Amara ^b   Winkler, Susen ^a   Nürnberg, Gudrun ^f,g   Thiele, Holger ^f   Nürnberg, Peter ^f,g   Jamil, Ahmad Zeeshan ^c   Brüggemann, Anne ^a   Abbas, Ghazanfar ^d   Klein, Christine ^a   Naz, Sadaf ^b   Lohmann, Katja ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c Department of Ophthalmology   (Pakistan)

^d SERVICES HOSPITAL   (Pakistan)

^e UNIVERSITY OF SYDNEY   (Australia)

^f UNIVERSITY OF COLOGNE   (Germany)

^g UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CEREBELLAR ATAXIA; CHOREA; CHROMOSOME 13Q; CONTROLLED STUDY; DYSTONIA; ETHNIC GROUP; EXOME; EYE EXAMINATION; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; OPA3 GENE; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PAKISTANI; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL SIGN; SINGLE NUCLEOTIDE POLYMORPHISM; VIDEOTAPE;

EID: 84878782709     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.1174     Document Type: Article

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