CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Author:

Astuto L.M.,Bork J.M.,Weston M.D.,Askew J.W.,Fields R.R.,Orten D.J.,Ohliger S.J.,Riazuddin S.,Morell R.J.,Khan S.,Riazuddin S.,Kremer H.,van Hauwe P.,Moller C.G.,Cremers C. W.R.J.,Ayuso C.,Heckenlively J.R.,Rohrschneider K.,Spandau U.,Greenberg J.,Ramesar R.,Reardon W.,Bitoun P.,Millan J.,Legge R.,Friedman T.B.,Kimberling W.J.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Ahmed ZA, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PSN, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type 1C are allelic mutations of USH1C. Hum Genet (in press)

2. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F;Ahmed;Am J Hum Genet,2001

3. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F;Alagramam;Hum Mol Genet,2001

4. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I;Astuto;Am J Hum Genet,2000

5. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene;Bitner-Glindzicz;Nat Genet,2000

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