Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

C Toomes, NJ Marchbank, DA Mackey, JE Craig, RA Newbury-Ecob, CP Bennett, CJ Vize, SP Desai, GCM Black, N Patel, M Teimory, AF Markham, CF Inglehearn, AJ Churchill

Research output: Contribution to journalArticle (Academic Journal)peer-review

117 Citations (Scopus)
Translated title of the contributionSpectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Original languageEnglish
Pages (from-to)1369 - 1378
Number of pages10
JournalHuman Molecular Genetics
Volume10 (13)
DOIs
Publication statusPublished - Oct 2001

Bibliographical note

Publisher: Oxford University Press

Cite this