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

Research output: Contribution to journal › Journal article › Research › peer-review

Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark.
Original languageEnglish
JournalBMC Medical Genetics
Volume13
Pages (from-to)65
ISSN1471-2350
DOIs
Publication statusPublished - Aug 2012

    Research areas

  • Base Sequence, Cohort Studies, DNA Primers, Denmark, Founder Effect, GTP Phosphohydrolases, Genetic Testing, Haplotypes, Humans, Molecular Sequence Data, Multiplex Polymerase Chain Reaction, Mutation, Optic Atrophy, Autosomal Dominant, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Sequence Analysis, DNA

ID: 47684668