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

@inproceedings{Almind2012DominantOA,
  title={Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%},
  author={Gitte Juul Almind and Jakob Ek and Thomas Rosenberg and Hans Eiberg and Michael Larsen and LuCamp LuCamp and Karen Br\ondum-Nielsen and Karen Gr\onskov},
  booktitle={BMC Medical Genetics},
  year={2012}
}
Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. 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 coding sequence and multiplex ligation-dependent probe amplification (MLPA) were performed. Results from MLPA analysis have been previously reported. Haplotype analysis was carried out analysing single nucleotide… CONTINUE READING

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Mutation spectrum and splicing variants in the OPA1 gene

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