首页 | 本学科首页   官方微博 | 高级检索  
   检索      


A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly
Authors:Darcie Babcock  Cheryll Gasner  Uta Francke  C Maslen
Institution:(1) Department of Medicine, L465, Oregon Health Sciences University, 3181 SW Sam Jackson Park Road, Portland, OR 97201-3098, USA Tel.: +1 503 494 2011, Fax: +1 503 494 6986, US;(2) Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA, US;(3) University Congenital Heart Research Center, Oregon Health Sciences University, Portland, OR 97201, USA, US;(4) Center for Marfan Syndrome & Related Connective Tissue Disorders, Stanford University Medical Center, Stanford, CA 94305, USA, US;(5) Howard Hughes Medical Institute, Stanford University Medical Center, Stanford, CA 94305, USA, US;(6) Department of Genetics, Stanford University Medical Center, Stanford, California 94305, USA, US
Abstract:
Keywords:
本文献已被 SpringerLink 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号