Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene

Published:2003-01 Issue:4 Volume:24 Page:203-214
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Rudolph Günther,Preising Markus,Kalpadakis Petros,Haritoglou Christos,Lang Gabriele E.,Lorenz Birgit

Publisher

Swets & Zeitlinger Publishers

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1076/opge.24.4.203.17232

Reference24 articles.

1. Mode of Inheritance in Chorioideremia

2. Haplotype and multipoint linkage analysis in Finnish choroideremia families

3. Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

4. Choroideremia in a female.

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A global survey of visual symptoms in female carriers of choroideremia and X-linked retinitis pigmentosa;AJO International;2024-04

2. Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia;Ophthalmology Science;2023-12

3. Choroidal neovascularisation in a predicted female choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor;European Journal of Ophthalmology;2021-04

4. Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches;Eye;2020-05-28

5. Spectrum of Disease Severity and Phenotype in Choroideremia Carriers;American Journal of Ophthalmology;2019-11

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3