The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
ABCR基因中的2588G→C突变是西欧人群中一种常见的轻微创始突变,可用于对Stargardt病患者的ABCR突变进行分类。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/302323
Maugeri, A; van Driel, M A; van de Pol, D J; Klevering, B J; van Haren, F J; Tijmes, N; Bergen, A A; Rohrschneider, K; Blankenagel, A; Pinckers, A J; Dahl, N; Brunner, H G; Deutman, A F; Hoyng, C B; Cremers, F P