Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

Author:

Astiazarán Mirena C.12ORCID,García-Montaño Leopoldo A.1,Sánchez-Moreno Francisco2,Matiz-Moreno Humberto3,Zenteno Juan C.14ORCID

Affiliation:

1. Research Unit, Genetics Department; Institute of Ophthalmology, “Conde de Valenciana”; Mexico City Mexico

2. General Ophthalmology Department, Fundación Hospital Nuestra Señora de la Luz, IAP; Mexico City Mexico

3. Anterior Segment Department; Institute of Ophthalmology, “Conde de Valenciana”; Mexico City Mexico

4. Department of Biochemistry, Faculty of Medicine; National Autonomous University of Mexico; Mexico City Mexico

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature

2. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

3. The galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update;Afgan;Nucleic Acids Research,2016

4. Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity;AlFadhli;Molecular Vision,2012

5. Gene conversion mutation in crystallin, ß-B2 (CRYBB2) in a Chilean family with autsomal dominant cataract;Bateman;Ophthalmology,2007

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