《Table 1:Demographic and clinical features of IPF patients》

《Table 1:Demographic and clinical features of IPF patients》   提示：宽带有限、当前游客访问压缩模式
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《TERT基因的罕见错义突变与中国汉族家族特发性肺纤维化相关（英文）》


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WES and analysis led to the identification of one variant in the TERT gene.Then，Sanger sequencing confirmed the heterozygous mutation in TERT，c.2146G>A，which causes a substitution of alanine for threonine at amino acid 716 in exon6[Figure 3].This missense mutation is a single?nucleotide polymorphism（SNP）in db SNP Build 147（rs387907249）with no AF data according to the ExAC and 1000 genomes databases.By Sanger sequencing we did not detect this mutation in 100 ethnically matched healthy controls.This alanine is highly conserved in all vertebrate species that we have examined and is located within the putative oligomerization domain[Figure 4].Furthermore，in silico analysis with the use of the SNPs3D database suggests that the A716T substitution is functionally deleterious.

图表编号XD00217064000    严禁用于非法目的
绘制时间2018.09.20
作者Chun-Ming Zheng、Xi Zhan、Yuan-Hua Yang、Tao Jiang、Qiao Ye、Yong Lu
绘制单位Medical Research Center,Beijing Institute of Respiratory Medicine,Beijing Chaoyang Hospital,Capital Medical University、Department of Respiratory and Critical Care Medicine,Beijing Chaoyang Hospital,Capital Medical University、Clinical Center for Interstiti
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