Journal article

Autosomal dominant optic atrophy: Penetrance and expressivity in patients with OPA1 mutations

Amn C Cohn, Carmel Toomes, Catherine Potter, Katherine V Towns, Alex W Hewitt, Chris F Inglehearn, Jamie E Craig, David A Mackey

American Journal of Ophthalmology | ELSEVIER SCIENCE INC | Published : 2007

DOI: 10.1016/j.ajo.2006.12.038

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Keywords

Middle Aged
Pedigree
Gtpase
Dna Mutational Analysis
Optic Atrophy, Autosomal Dominant
Brain
Child
Cross-Sectional Studies
Aged, 80 and Over
Polymorphism, Single-Stranded Conformational
Aged
Dynamin-Related Protein
Gtp Phosphohydrolases
Linkage
Adult
Age
Adolescent
Life Sciences & Biomedicine
Mutation
Phenotype
Child, Preschool
Visual Acuity
Ophthalmology
Gene
Science & Technology
Humans
Penetrance
Clinical-Features
Heteroduplex Analysis
Spectrum
Kjer Type