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Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
Amy C AC Cohn, Carmel C Toomes, Catherine C Potter, Katherine V KV Towns, Alex W AW Hewitt, Chris F CF Inglehearn, Jamie E JE Craig and David A DA Mackey
Am J Ophthalmol 143(4):656-62 (2007)
PMID 17306754
We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees.
DOI: 10.1016/j.ajo.2006.12.038
Version: za2963e q8za5 q8zb8 q8zc5 q8zdf q8ze4 q8zfe q8zg5
DOI: 10.1016/j.ajo.2006.12.038
Version: za2963e q8za5 q8zb8 q8zc5 q8zdf q8ze4 q8zfe q8zg5