Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency

Abstract

Human MutationVolume 3, Issue 3 p. 315-317 Mutation in Brief Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency Amrik Sahota, Corresponding Author Amrik Sahota Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorJu Chen, Ju Chen Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorSteven Bye, Steven Bye Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorJames Jaing, James Jaing Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorM. Berenyi, M. Berenyi Department of Urology, Semmelweis University Medical School, Budapest, Hungary; Fax: 317-274-2387Search for more papers by this authorGyorgy Fekete, Gyorgy Fekete Department of Pediatrics No. II, Semmelweis University Medical School, Budapest, Hungary; Fax: 317-274-2387Search for more papers by this authorJay A. Tischfield, Jay A. Tischfield Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this author Amrik Sahota, Corresponding Author Amrik Sahota Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorJu Chen, Ju Chen Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorSteven Bye, Steven Bye Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorJames Jaing, James Jaing Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this authorM. Berenyi, M. Berenyi Department of Urology, Semmelweis University Medical School, Budapest, Hungary; Fax: 317-274-2387Search for more papers by this authorGyorgy Fekete, Gyorgy Fekete Department of Pediatrics No. II, Semmelweis University Medical School, Budapest, Hungary; Fax: 317-274-2387Search for more papers by this authorJay A. Tischfield, Jay A. Tischfield Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202; Fax: 317-274-2387Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380030324Citations: 2AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume3, Issue31994Pages 315-317 RelatedInformation