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 language | English |
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Journal | BMC Medical Genetics |
Volume | 13 |
Pages (from-to) | 65 |
ISSN | 1471-2350 |
DOIs | |
Publication status | Published - Aug 2012 |
- 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
Research areas
ID: 47684668