Mosaicism of de novo SCN1A mutations in epilepsy: an explanation for variable phenotypes?

被引：0

作者：

De lange, I. M. ^{[1
]}

Koudijs, M. ^{[1
]}

van't Slot, R. ^{[1
]}

Mulder, F. ^{[1
]}

Carbo, E. C. ^{[1
,2
]}

van Kempen, M. ^{[1
]}

Gunning, B. ^{[3
]}

van Gemert, L. ^{[4
]}

Sonsma, A. ^{[1
]}

Savelberg, S. ^{[1
]}

Knoers, N. ^{[1
]}

Brilstra, E. ^{[1
]}

Koeleman, B. ^{[1
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Genet, Ctr Mol Med, Utrecht, Netherlands

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[3] Stichting Epilepsie Instellingen Nederland, Zwolle, Netherlands

[4] Epilepsy Ctr Kempenhaeghe, Heeze, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷

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：

P09.078B

引用

页码：398 / 398

页数：1

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