Additive effect of frequent and rare synonymous variants as the cause of altered NPC1 splicing in twin patients with Niemann-Pick disease type C

被引：0
|
作者：
Bychkov, Igor [1 ]
Filatova, Aleksandra [1 ]
Proshlyakova, Tatiana [1 ]
Tabakov, Vyacheslav [1 ]
Baydakova, Galina [1 ]
Ilyushkina, Alexandra [1 ]
Skoblov, Mikhail [1 ]
Zakharova, Ekaterina [1 ]
机构：
[1] Res Ctr Med Genet, Moscow, Russia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P10.015.C
引用
收藏
页码：310 / 310
页数：1
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