Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

BACKGROUND: The molecular and genetic mechanisms by which different single nucleotide variant alleles in specific genes, or at the same genetic locus, cause distinct disease phenotypes often remain unclear. Allelic truncating mutations of FBN1 could cause either classical Marfan syndrome (MFS) or a...

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Detalles Bibliográficos
Autores principales: Lin, Mao, Liu, Zhenlei, Liu, Gang, Zhao, Sen, Li, Chao, Chen, Weisheng, Coban Akdemir, Zeynep, Lin, Jiachen, Song, Xiaofei, Wang, Shengru, Xu, Qiming, Zhao, Yanxue, Wang, Lianlei, Zhang, Yuanqiang, Yan, Zihui, Liu, Sen, Liu, Jiaqi, Chen, Yixin, Zuo, Yuzhi, Yang, Xu, Sun, Tianshu, Yang, Xin‐Zhuang, Niu, Yuchen, Li, Xiaoxin, You, Wesley, Qiu, Bintao, Ding, Chen, Liu, Pengfei, Zhang, Shuyang, Carvalho, Claudia M. B., Posey, Jennifer E., Qiu, Guixing, Lupski, James R., Wu, Zhihong, Zhang, Jianguo, Wu, Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978264/
https://www.ncbi.nlm.nih.gov/pubmed/31774634
http://dx.doi.org/10.1002/mgg3.1023

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