Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

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Standard

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. / Almind, Gitte J; Grønskov, Karen; Milea, Dan; Larsen, Michael; Brøndum-Nielsen, Karen; Ek, Jakob.

In: BMC Medical Genetics, Vol. 12, No. 1, 2011, p. 49.

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

Harvard

Almind, GJ, Grønskov, K, Milea, D, Larsen, M, Brøndum-Nielsen, K & Ek, J 2011, 'Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy', BMC Medical Genetics, vol. 12, no. 1, pp. 49. https://doi.org/10.1186/1471-2350-12-49

APA

Almind, G. J., Grønskov, K., Milea, D., Larsen, M., Brøndum-Nielsen, K., & Ek, J. (2011). Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. BMC Medical Genetics, 12(1), 49. https://doi.org/10.1186/1471-2350-12-49

Vancouver

Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. BMC Medical Genetics. 2011;12(1):49. https://doi.org/10.1186/1471-2350-12-49

Author

Almind, Gitte J ; Grønskov, Karen ; Milea, Dan ; Larsen, Michael ; Brøndum-Nielsen, Karen ; Ek, Jakob. / Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. In: BMC Medical Genetics. 2011 ; Vol. 12, No. 1. pp. 49.

Bibtex

@article{5a90c5550ce54a0eb790611937065540,
title = "Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy",
abstract = "Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported in ADOA, the frequency of OPA1 genomic rearrangements in Denmark, where ADOA has a high prevalence, is unknown. The aim of the study was to identify copy number variations in OPA1 in Danish ADOA patients.",
author = "Almind, {Gitte J} and Karen Gr{\o}nskov and Dan Milea and Michael Larsen and Karen Br{\o}ndum-Nielsen and Jakob Ek",
year = "2011",
doi = "10.1186/1471-2350-12-49",
language = "English",
volume = "12",
pages = "49",
journal = "B M C Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

TY - JOUR

T1 - Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

AU - Almind, Gitte J

AU - Grønskov, Karen

AU - Milea, Dan

AU - Larsen, Michael

AU - Brøndum-Nielsen, Karen

AU - Ek, Jakob

PY - 2011

Y1 - 2011

N2 - Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported in ADOA, the frequency of OPA1 genomic rearrangements in Denmark, where ADOA has a high prevalence, is unknown. The aim of the study was to identify copy number variations in OPA1 in Danish ADOA patients.

AB - Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported in ADOA, the frequency of OPA1 genomic rearrangements in Denmark, where ADOA has a high prevalence, is unknown. The aim of the study was to identify copy number variations in OPA1 in Danish ADOA patients.

U2 - 10.1186/1471-2350-12-49

DO - 10.1186/1471-2350-12-49

M3 - Journal article

C2 - 21457585

VL - 12

SP - 49

JO - B M C Medical Genetics

JF - B M C Medical Genetics

SN - 1471-2350

IS - 1

ER -

ID: 33503854