Mutations in Hnrnpa1 cause congenital heart defects

Incomplete penetrance of congenital heart defects (CHDs) was observed in a mouse model. We hypothesized that the contribution of a major genetic locus modulates the manifestation of the CHDs. After genome-wide linkage mapping, fine mapping, and high-throughput targeted sequencing, a recessive frames...

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Detalles Bibliográficos
Autores principales: Yu, Zhe, Tang, Paul L.F., Wang, Jing, Bao, Suying, Shieh, Joseph T., Leung, Alan W.L., Zhang, Zhao, Gao, Fei, Wong, Sandra Y.Y., Hui, Andy L.C., Gao, Yuan, Dung, Nelson, Zhang, Zhi-Gang, Fan, Yanhui, Zhou, Xueya, Zhang, Yalun, Wong, Dana S.M., Sham, Pak C., Azhar, Abid, Kwok, Pui-Yan, Tam, Patrick P.L., Lian, Qizhou, Cheah, Kathryn S.E., Wang, Binbin, Song, You-Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5821217/
https://www.ncbi.nlm.nih.gov/pubmed/29367466
http://dx.doi.org/10.1172/jci.insight.98555

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