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A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family

机译：FRMD7中的新型移码突变在中国家庭中引起X连锁特发性先天性眼球震颤

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摘要

PurposeTo screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN).

机译：目的筛选中国X族特发性先天性眼球震颤（ICN）家族中含FERM域7（FRMD7）基因的突变。

著录项

期刊名称 Molecular Vision
作者
Wei Du; Juan Bu; Jiamei Dong; Yanlei Jia; Jing Li; Chen Liang; Shancheng Si; Lejin Wang;
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作者单位

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年(卷),期 2011(17),-1
年度 2011
页码 2765–2768
总页数 4
原文格式 PDF
正文语种
中图分类分子生物学 ; 眼科学 ;
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专利

1. A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family [J] . Wei DuJuan BuJiamei DongYanlei JiaJing LiChen LiangShancheng SiLejin Wang Molecular vision . 2011 ,第2011期

机译：FRMD7中的新型移码突变在中国家庭中导致X连锁特发性先天性眼球震颤
2. A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family [J] . Bu Juan, Dong Jiamei, Du Wei, Molecular vision . 2011 ,第2011期

机译：FRMD7中的新型移码突变在中国家庭中导致X连锁特发性先天性眼球震颤
3. Erratum to: Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus [J] . Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Journal of Zhejiang University SCIENCE B . 2013 ,第9期

机译：勘误至：中国人X连锁性特发性先天性眼球震颤的新型突变c.980_983delATTA化合物，具有c.986C> FRMD7基因突变
4. Feasibility of Machine Learning in Predicting Features Related to Congenital Nystagmus [C] . Giovanni DAddio, Carlo Ricciardi, Giovanni Improta Mediterranean Conference on Medical and Biological Engineering and Computing . 2020

机译：预测先天性腹部震颤相关特征的机器学习的可行性
5. Bovine X chromosome inactivation and epimutation of X-linked genes in deceased bovine clones [D] . Xue, Fei 2004

机译：死牛克隆中的牛X染色体失活和X连锁基因的突变
6. Erratum to: Novel mutation c.980_983delATTA compound with c.986CA mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus [O] . Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, 2013

机译：勘误至：中国人X连锁性特发性先天性眼球震颤的新型突变c.980_983delATTA化合物具有c.986C FRMD7基因突变
7. Erratum to: Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus [O] . Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, 2013

机译：错误至：新突变C.980_983Delatta化合物与C.986C>中华人民族FRMD7基因的突变，具有X链状特发性先天性肌囊肿

A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family

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