Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

BACKGROUND: Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. METHODS: Index patients from 93 unrelated ADOA families were assessed for a common Danish founder mutation (c.2826_2836delinsGGATGCTCCA) inOPA1. If negative, direct DNA sequencing of the co...

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Bibliografiska uppgifter
Huvudupphovsmän: Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, LuCamp, LuCamp, Brøndum-Nielsen, Karen, Grønskov, Karen
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2012
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3507804/
https://ncbi.nlm.nih.gov/pubmed/22857269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-65
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