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

• Main Authors: Almind Gitte J (Author), Ek Jakob (Author), Rosenberg Thomas (Author), Eiberg Hans (Author), Larsen Michael (Author), LuCamp LuCamp (Author), Brøndum-Nielsen Karen (Author), Grønskov Karen (Author)
• Format: Book
• Published: BMC, 2012-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...