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

• Prif Awduron: Almind Gitte J (Awdur), Ek Jakob (Awdur), Rosenberg Thomas (Awdur), Eiberg Hans (Awdur), Larsen Michael (Awdur), LuCamp LuCamp (Awdur), Brøndum-Nielsen Karen (Awdur), Grønskov Karen (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2012-08-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

<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...