Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene
Author:
Affiliation:
1. Institute for Maternal and Child Health-IRCCS “Burlo Garofolo”-Trieste; Italy
2. University of Trieste; Trieste Italy
3. CeGaT GmbH; Tübingen Germany
4. CBM S.c.r.l. Area Science Park-Basovizza; Trieste Italy
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010
2. Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients;Asamura;Auris Nasus Larynx,2005
3. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome;Baker;Am J Med Genet A,2011
4. A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity;Czarny-Ratajczak;Am J Hum Genet,2001
5. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia;Goldstein;Mamm Genome,2010
Cited by 48 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. Three Familial Cases of Stickler Syndrome: A Case Report;Journal of the Korean Ophthalmological Society;2024-07-15
2. The cochlear matrisome: Importance in hearing and deafness;Matrix Biology;2024-01
3. Type IX collagen;Biochemistry of Collagens, Laminins and Elastin;2024
4. Hereditary Vitreoretinopathies;Reference Module in Neuroscience and Biobehavioral Psychology;2024
5. The genetics and disease mechanisms of rhegmatogenous retinal detachment;Progress in Retinal and Eye Research;2023-11
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