Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families

机译：FBN1基因突变筛查导致中国家庭马凡氏综合征及相关疾病

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BackgroundPrevious studies showed that the fibrillin‐1 gene (FBN1) is responsible for Marfan sydrome (MFS) pathogenesis. This study is conducted to screen for mutations in the FBN1 gene in Chinese families with MFS.

机译：背景先前的研究表明，原纤维蛋白1基因（FBN1）是造成马凡氏综合征（MFS）发病的原因。进行这项研究以筛选中国MFS家庭的FBN1基因突变。

著录项

期刊名称 Molecular Genetics Genomic Medicine
作者
Bo Gong; Lan Yang; Qingwei Wang; Zimeng Ye; Xiaoxin Guo; Chen Yang; Fang Hao; Yi Shi; Yi Huang; Chao Qu; Zhenglin Yang;
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作者单位

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年(卷),期 2019(7),4
年度 2019
页码 e00594
总页数 10
原文格式 PDF
正文语种
中图分类遗传学;
关键词
fibrillin‐1 (FBN1) heterozygous mutation Marfan syndrome (MFS) targeted next‐generation sequencing (NGS);

机译：原纤维蛋白1（FBN1）;杂合突变;马凡氏综合征（MFS）;靶向下一代测序（NGS）;
入库时间 2022-08-21 11:00:43

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专利

1. Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families [J] . Bo Gong, Lan Yang, Qingwei Wang, Molecular Genetics & Genomic Medicine . 2019,第4期

机译：FBN1基因的突变筛选，负责玛司公综合征和中国家庭的相关疾病
2. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. [J] . Attanasio M, Lapini I, Evangelisti L, Clinical Genetics: An International Journal of Genetics in Medicine . 2008,第1期

机译：马凡氏综合征和相关疾病患者的FBN1突变筛查：检测到46个新的FBN1突变。
3. Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome [J] . Ma Mingjia, Li Zongzhe, Wang Dao Wen, Molecular medicine reports . 2016,第1aPta1期

机译：下一代测序鉴定了两个马凡氏综合征中国家庭的FBN1基因新突变
4. A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome [C] . Tingting Zhang, Mingjie Chen, Yan Lü, Academic Committee Conference of Shanghai key lab of stomatology . 2011

机译：PTCH1基因的新型突变激活了中国患有避免基底细胞癌综合征的中国家庭的Shh / Gli信号通路
5. Marfan Syndrome-Related Mutations Lead to Abnormal Trafficking of TGF-β Family Receptors [D] . Lin, Jing. 2019

机译：Marfan综合征相关的突变导致TGF-β家族受体的异常贩运
6. Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome [O] . MINGJIA MA, ZONGZHE LI, DAO WEN WANG, -1

机译：下一代测序鉴定了两个中国人患有马凡氏综合症的FBN1基因的新突变
7. Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome [O] . Cabrera-Bueno Fernando, Fernandez-Rosado Francisco, Alvarez-Cubero Maria Jesus, 2014

机译：两例马凡氏综合症家庭病例中FBN1基因的未描述突变

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Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families

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