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Identification of mutations in Danish choroideremia families

 

作者: Marianne Schwartz,   Thomas Rosenberg,   José A. J. M. van den Hurk,   Dorien J. R. van den Pol,   Frans P. M. Cremers,  

 

期刊: Human Mutation  （WILEY Available online 1993）
卷期: Volume 2, issue 1  

页码: 43-47

 

ISSN:1059-7794

 

年代: 1993

 

DOI:10.1002/humu.1380020108

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: CHM;SSCP;Choroideremia;Mutation

 

数据来源: WILEY

 

摘要:

AbstractWe have searched for mutations in the choroideremia gene (CHM) in patients from 12 Danish families in which CHM is segregating. Employing polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and direct DNA sequencing, different mutations have been identified in 6 patients. All the mutations will interfere with the correct translation of the mRNA predicting a truncated protein or no gene product at all. © 1993 Wiley‐Liss, I

 

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