Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome

Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. However, in approximately 20–35% of patients, it is caused by unknown genetic factors, and the inherited pathogenic factors are difficult to confirm. Kartagener...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Yue, Yongjian, Huang, Qijun, Zhu, Peng, Zhao, Pan, Tan, Xinjuan, Liu, Shengguo, Li, Shulin, Han, Xuemei, Cheng, Linling, Li, Bo, Fu, Yingyun
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6713718/
https://ncbi.nlm.nih.gov/pubmed/31507630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00749
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