Literature DB >> 25304743

Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.

Yan Xiao1, Yaxin Liu1, Kunqi Yang1, Yankun Yang1, Xianliang Zhou2, Chaoxia Lu3, Jifang Xiao3, Fang Liu3, Xue Zhang3.   

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Year:  2014        PMID： 25304743     DOI： 10.1016/j.cca.2014.09.034

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  1 in total

1.  Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

Authors:  Mingjia Ma; Zongzhe Li; Dao Wen Wang; Xiang Wei
Journal:  Mol Med Rep       Date:  2016-05-09       Impact factor: 2.952
  1 in total

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