The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

Ophthalmology

Volumn 117, Issue 8, 2010, Pages

  Yu Wai Man, Patrick ^a,b   Griffiths, Philip G ^a,b   Burke, Ailbhe ^a   Sellar, Peter W ^c   Clarke, Michael P ^b   Gnanaraj, Lawrence ^d   Ah Kine, Desiree ^e   Hudson, Gavin ^a   Czermin, Birgit ^f   Taylor, Robert W ^a   Horvath, Rita ^a   Chinnery, Patrick F ^a,g  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c WEST CUMBERLAND HOSPITAL   (United Kingdom)

^d SUNDERLAND EYE INFIRMARY   (United Kingdom)

^e JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^f MGZ Center of Medical Genetics   (Germany)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; HAPLOTYPE; HAPLOTYPE MAP; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPA1 GENE; OPA3 GENE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; UNITED KINGDOM; VISION; VISUAL ACUITY; VISUAL IMPAIRMENT;

EID: 77955473981     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2009.12.038     Document Type: Article

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