首页> 外文OA文献 >Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome)

【2h】

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome)

机译：bZIp转录因子maF中的新型错义突变，与先天性白内障，发育迟缓，癫痫发作和听力丧失相关（ayme-Gripp综合征）

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
引文网络
相似文献
相关主题

摘要

Published online: 08 May 2017

机译：在线发布：2017年5月8日

著录项

作者
Javadiyan S.; Craig J.; Sharma S.; Lower K.; Casey T.; Haan E.; Souzeau E.; Burdon K.;
展开▼
作者单位

展开▼
年度 2017
总页数
原文格式 PDF
正文语种 en
中图分类

相似文献

外文文献
中文文献
专利

1. Novel missense mutation in the bZIP transcription factor, MAF , associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome) [J] . Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, BMC Medical Genetics . 2017,第1期

机译：Bzip转录因子，MAF的新型畸形突变，与先天性白内障相关，发育延迟，癫痫发作和听力损失（Ayymé-Gripp综合征）
2. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss [J] . NakashimaM., TakanoK., OsakaH., Journal of human genetics . 2014,第8期

机译：早期发作性癫痫，发育迟缓综合征和听力损失的小头畸形患者的致病性新型PNKP突变和伴随的PCDH15突变
3. Mutation update of transcription factor genes FOXE3 FOXE3 , HSF4 HSF4 , MAF MAF , and PITX3 PITX3 causing cataracts and other developmental ocular defects [J] . Anand Deepti, Agrawal Smriti A., Slavotinek Anne, Human mutation . 2018,第4期

机译：转录因子基因突变更新Foxe3 Foxe3，HSF4 HSF4，MAF MAF和PITX3 PITX3引起白内障和其他发育眼缺损
4. Functional consequences of missense mutation in the GJB2 gene associated with non-synclromic hearing loss [C] . Lee Kyu Yup, Choi Soo-Young, Lin Xi, Asia Pacific Symposium on Cochlear Implant and Related SciencesAsia Pacific Symposium on Cochlear Implant and Related Sciences . 2009

机译：与非辛瘤性听力损失相关的GJB2基因畸形突变的功能后果
5. Diagnostic Odyssey: Investigating the Role of a Mutation in the CUL4B Gene and its Effect on the CUL4B Protein Complex in a Patient with Seizures and Developmental Delay. [D] . Basila, Desiree. 2016

机译：诊断性奥德赛：研究癫痫发作和发育迟缓患者中CUL4B基因突变的作用及其对CUL4B蛋白复合物的影响。
6. Novel missense mutation in the bZIP transcription factor MAF associated with congenital cataract developmental delay seizures and hearing loss (Aymé-Gripp syndrome) [O] . Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, 2017

机译：bZIP转录因子MAF中的新的错义突变与先天性白内障发育迟缓癫痫发作和听力下降有关（Aymé-Gripp综合征）
7. Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome) [O] . Javadiyan, Shari, Craig, Jamie E, Sharma, Shiwani, 2017

机译：bZIP转录因子MAF中的新的错义突变，与先天性白内障，发育迟缓，癫痫发作和听力下降有关（Aymé-Gripp综合征）

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome)

摘要

著录项

引文网络

相似文献

相关主题

期刊订阅