Pathogenicity evaluation and the genotype–phenotype analysis of OPA1 variants
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-021-01783-0.pdf
Reference50 articles.
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2. Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brondum-Nielsen K, Gronskov K (2012) Dominant optic atrophy in Denmark—report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. BMC Med Genet 13:65
3. Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferre M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P (2009) OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 41:1855–1865
4. Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schule R, Zuchner S, Schols L, Wissinger B, Synofzik M (2014) Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain 137:2164–2177
5. Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E (2015) ‘Behr syndrome’ with OPA1 compound heterozygote mutations. Brain 138:e321
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