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

页码：310 / 310

页数：1

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[1] Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
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[2] Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
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