Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

American Journal of Ophthalmology

Volumn 143, Issue 4, 2007, Pages

  Cohn, Amy C ^a,b   Toomes, Carmel ^c   Potter, Catherine ^c   Towns, Katherine V ^c   Hewitt, Alex W ^a,d   Inglehearn, Chris F ^c   Craig, Jamie E ^d   Mackey, David A ^a,b  

^a ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d FLINDERS MEDICAL CENTRE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT OPTIC ATROPHY; CLINICAL EXAMINATION; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HEREDITY; HETERODUPLEX ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; OPA1 GENE; PEDIGREE; PENETRANCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY;

EID: 33947360806     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2006.12.038     Document Type: Article

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