Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
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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.
I: BMC Medical Genetics, Bind 12, Nr. 1, 2011, s. 49.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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