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

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