Mosaicism and incomplete penetrance of PCDH19 mutations

BACKGROUND: Mutations 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. OBJECTIVE: We aimed to investigate the occurrence of mosaic PCDH19 mu...

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Detalles Bibliográficos
Autores principales: Liu, Aijie, Yang, Xiaoxu, Yang, Xiaoling, Wu, Qixi, Zhang, Jing, Sun, Dan, Yang, Zhixian, Jiang, Yuwu, Wu, Xiru, Wei, Liping, Zhang, Yuehua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Somatic Mosaicism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581080/
https://www.ncbi.nlm.nih.gov/pubmed/30287595
http://dx.doi.org/10.1136/jmedgenet-2017-105235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581080/
https://www.ncbi.nlm.nih.gov/pubmed/30287595
http://dx.doi.org/10.1136/jmedgenet-2017-105235

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