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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Original Articles
Mynediad Ar-lein: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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