Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
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Author / Creator
Yang, Xiaoxu , Liu, Aijie , Xu, Xiaojing , Yang, Xiaoling , Zeng, Qi , Ye, Adam Yongxin , Yu, Zhe , Wang, Sheng , Huang, August Yue , Wu, Xiru , Wu, Qixi , Wei, Liping and Zhang, Yuehua
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by a severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen and 15 parents who donated multiple peripheral tissue samples. We used an ultra-sensitive quantification...
Alternative Titles
Full title
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5688122
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5688122
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-15814-7
