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1
Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.更正:NOTCH3致病变异位置对伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)疾病严重程度的影响:与表皮生长因子样结构域(EGFr)7-34致病变异相比,NOTCH3 EGFr 1-6致病变异与更严重的表型和更低的生存率相关。
Genet Med. 2019 Aug;21(8):1895. doi: 10.1038/s41436-018-0306-z.
2
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.NOTCH3 致病变异位置对 CADASIL 疾病严重程度的影响:与 EGFr 7-34 致病变异相比,NOTCH3 EGFr 1-6 致病变异与更严重的表型和更低的生存率相关。
Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22.
3
Correction: Estimating the burden and economic impact of pediatric genetic disease.更正:估算儿科遗传病的负担和经济影响。
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引用本文的文献

1
The expression of ASAP3 and NOTCH3 and the clinicopathological characteristics of adult glioma patients.成人胶质瘤患者中ASAP3和NOTCH3的表达及临床病理特征
Open Med (Wars). 2022 Oct 31;17(1):1724-1741. doi: 10.1515/med-2022-0585. eCollection 2022.
2
Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors.446 例 CADASIL 患者的表型变异性:除年龄、性别和血管危险因素的影响外,NOTCH3 基因突变位置的影响。
J Cereb Blood Flow Metab. 2023 Jan;43(1):153-166. doi: 10.1177/0271678X221126280. Epub 2022 Oct 17.

更正:NOTCH3致病变异位置对伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)疾病严重程度的影响:与表皮生长因子样结构域(EGFr)7-34致病变异相比,NOTCH3 EGFr 1-6致病变异与更严重的表型和更低的生存率相关。

Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.

作者信息

Rutten Julie W, Van Eijsden Bastian J, Duering Marco, Jouvent Eric, Opherk Christian, Pantoni Leonardo, Federico Antonio, Dichgans Martin, Markus Hugh S, Chabriat Hugues, Oberstein Saskia A J Lesnik

机构信息

CADASIL Research Group, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

Genet Med. 2019 Aug;21(8):1895. doi: 10.1038/s41436-018-0306-z.

DOI:10.1038/s41436-018-0306-z
PMID:30237574
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7608265/
Abstract

This Article was originally published under Nature Research's License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML versions of the Article have been modified accordingly.

摘要

本文最初根据自然研究的发布许可发表,但现在已根据[知识共享署名 4.0 国际许可协议]提供。文章的 PDF 和 HTML 版本已相应修改。