Dominant optic atrophy in Denmark – report of 15 novel mutations in <it>OPA1</it>, using a strategy with a detection rate of 90%

Dominant optic atrophy in Denmark – report of 15 novel mutations in <it>OPA1</it>, using a strategy with a detection rate of 90%

<p>Abstract</p> <p>Background</p> <p>Investigation of the <it>OPA1</it> mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark.</p> <p>Methods</p> <p>Index patients from 93 unrelated ADOA families were assessed for a...

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Bibliographic Details
Main Authors: Almind Gitte J, Ek Jakob, Rosenberg Thomas, Eiberg Hans, Larsen Michael, LuCamp LuCamp, Brøndum-Nielsen Karen, Grønskov Karen
Format: Article
Language:English
Published: BMC 2012-08-01
Series:BMC Medical Genetics
Subjects:
OPA1, Optic atrophy, Optic atrophies, Hereditary, Autosomal dominant, ADOA, Genetics, Optic neuropathies, Optic nerve, Genotype
Phenotype
Online Access:http://www.biomedcentral.com/1471-2350/13/65

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http://www.biomedcentral.com/1471-2350/13/65

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