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Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. / Almind, Gitte J; Ek, Jakob; Rosenberg, Thomas; Eiberg, Hans; Larsen, Michael; Lucamp, Lucamp; Brøndum-Nielsen, Karen; Grønskov, Karen.
In:
BMC Medical Genetics, Vol. 13, 08.2012, p. 65.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Almind, GJ, Ek, J, Rosenberg, T
, Eiberg, H, Larsen, M, Lucamp, L, Brøndum-Nielsen, K & Grønskov, K 2012, '
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%',
BMC Medical Genetics, vol. 13, pp. 65.
https://doi.org/10.1186/1471-2350-13-65APA
Almind, G. J., Ek, J., Rosenberg, T.
, Eiberg, H., Larsen, M., Lucamp, L., Brøndum-Nielsen, K., & Grønskov, K. (2012).
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
BMC Medical Genetics,
13, 65.
https://doi.org/10.1186/1471-2350-13-65Vancouver
Almind GJ, Ek J, Rosenberg T
, Eiberg H, Larsen M, Lucamp L et al.
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
BMC Medical Genetics. 2012 Aug;13:65.
https://doi.org/10.1186/1471-2350-13-65Author
Almind, Gitte J ; Ek, Jakob ; Rosenberg, Thomas ; Eiberg, Hans ; Larsen, Michael ; Lucamp, Lucamp ; Brøndum-Nielsen, Karen ; Grønskov, Karen. / Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. In: BMC Medical Genetics. 2012 ; Vol. 13. pp. 65.
Bibtex
@article{68ed3ffcaf10485c90dc13d5bae62cc7,
title = "Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%",
abstract = "Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark.",
keywords = "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",
author = "Almind, {Gitte J} and Jakob Ek and Thomas Rosenberg and Hans Eiberg and Michael Larsen and Lucamp Lucamp and Karen Br{\o}ndum-Nielsen and Karen Gr{\o}nskov",
year = "2012",
month = aug,
doi = "10.1186/1471-2350-13-65",
language = "English",
volume = "13",
pages = "65",
journal = "B M C Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central Ltd.",
}
RIS
TY - JOUR
T1 - Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
AU - Almind, Gitte J
AU - Ek, Jakob
AU - Rosenberg, Thomas
AU - Eiberg, Hans
AU - Larsen, Michael
AU - Lucamp, Lucamp
AU - Brøndum-Nielsen, Karen
AU - Grønskov, Karen
PY - 2012/8
Y1 - 2012/8
N2 - Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark.
AB - Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark.
KW - Base Sequence
KW - Cohort Studies
KW - DNA Primers
KW - Denmark
KW - Founder Effect
KW - GTP Phosphohydrolases
KW - Genetic Testing
KW - Haplotypes
KW - Humans
KW - Molecular Sequence Data
KW - Multiplex Polymerase Chain Reaction
KW - Mutation
KW - Optic Atrophy, Autosomal Dominant
KW - Polymerase Chain Reaction
KW - Polymorphism, Single Nucleotide
KW - Sequence Analysis, DNA
U2 - 10.1186/1471-2350-13-65
DO - 10.1186/1471-2350-13-65
M3 - Journal article
C2 - 22857269
VL - 13
SP - 65
JO - B M C Medical Genetics
JF - B M C Medical Genetics
SN - 1471-2350
ER -
