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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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978264/
https://ncbi.nlm.nih.gov/pubmed/31774634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1023
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