Mosaicism and incomplete penetrance of PCDH19 mutations
Mosaicism and incomplete penetrance of PCDH19 mutations
About this item
Full title
Author / Creator
Liu, Aijie , Yang, Xiaoxu , Yang, Xiaoling , Wu, Qixi , Zhang, Jing , Sun, Dan , Yang, Zhixian , Jiang, Yuwu , Wu, Xiru , Wei, Liping and Zhang, Yuehua
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
BackgroundMutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism.ObjectiveWe aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient...
Alternative Titles
Full title
Mosaicism and incomplete penetrance of PCDH19 mutations
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6581080
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6581080
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2017-105235
