Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “ de novo ” SCN1A Mutations in Children with Dravet Syndrome-Reference-Cited by-同舟云学术

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “ de novo ” SCN1A Mutations in Children with Dravet Syndrome

Published:2015-07-24 Issue:9 Volume:36 Page:861-872
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Xu Xiaojing¹,Yang Xiaoxu²,Wu Qixi³,Liu Aijie¹,Yang Xiaoling¹,Ye Adam Yongxin²⁴⁵,Huang August Yue³,Li Jiarui²,Wang Meng²,Yu Zhe³,Wang Sheng³⁶,Zhang Zhichao⁷,Wu Xiru¹,Wei Liping²³,Zhang Yuehua¹

Affiliation:

1. Department of Pediatrics Peking University First Hospital Beijing China

2. Center for Bioinformatics State Key Laboratory of Protein and Plant Gene Research School of Life Sciences Peking University Beijing China

3. National Institute of Biological Sciences Beijing China

4. Peking‐Tsinghua Center for Life Sciences Beijing China

5. Academy for Advanced Interdisciplinary Studies Peking University Beijing China

6. College of Biological Sciences China Agricultural University Beijing China

7. Andrology Center Peking University First Hospital Beijing China

Funder

Ministry of Science and Technology of China

National Natural Science Foundation of China

Peking University Clinical Cooperation “985 Project”

Beijing Municipal Science and Technology Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22819

Reference63 articles.

1. A method and server for predicting damaging missense mutations

2. Advances in Alport syndrome diagnosis using next-generation sequencing

3. Fever, genes, and epilepsy

4. A genomic view of mosaicism and human disease

5. Mosaicism in Alport syndrome and genetic counselling

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