日期:
2020 年 — 2026 年
2020
2021
2022
2023
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2025
2026
影响因子:

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。

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

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

ABCR基因不同突变导致视网膜营养不良家族成员表型变异

Klevering, B J; van Driel, M; van de Pol, D J; Pinckers, A J; Cremers, F P; Hoyng, C B

Reply to Inglehearn

回复英格尔赫恩

Bergen, A A; Pinckers, A J

Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome

两名患有脉络膜视网膜营养不良、促性腺激素低下性性腺功能减退症和小脑共济失调的同胞:布歇-诺伊豪瑟综合征

Rump, P; Hamel, B C; Pinckers, A J; van Dop, P A

Ectopia lentis et pupillae syndrome in three generations

三代晶状体和瞳孔异位综合征

Cruysberg, J R; Pinckers, A

Yellowish flecks in Leber's congenital amaurosis

莱伯氏先天性黑蒙症中的黄色斑点

Chew, E; Deutman, A; Pinckers, A; Aan de Kerk, A

Retinal dystrophies associated with peripheral retinal vasculopathy

与周围视网膜血管病变相关的视网膜营养不良

Grizzard, W S; Deutman, A F; Pinckers, A J