Article
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.
Human mutation - 1 Apr 2017
Cornelis Stéphanie S, Bax Nathalie M, Zernant Jana, Allikmets Rando, Fritsche Lars G, den Dunnen Johan T, Ajmal Muhammad, Hoyng Carel B, Cremers Frans P M
Abstract excerpt
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive (ar) Stargardt disease (STGD1) and ar cone-rod dystrophy. The clinical outcome to a large degree depends on the severity of the variants. To provide an accurate prognosis and to select patients for novel treatments, functional significance assessment of nontruncating ABCA4...
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