Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in theCYBBGene-Reference-Cited by-同舟云学术

Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in theCYBBGene

Published:2014-02-24 Issue:4 Volume:35 Page:486-496
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

de Boer Martin¹,van Leeuwen Karin¹,Geissler Judy¹²,Weemaes Corry M.³,van den Berg Timo K.¹,Kuijpers Taco W.¹²,Warris Adilia³,Roos Dirk¹

Affiliation:

1. Sanquin Research and Landsteiner Laboratory; Academic Medical Centre; University of Amsterdam; Amsterdam 1066 CX The Netherlands

2. Emma Childrens Hospital; Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

3. Department of Pediatrics and the Nijmegen Institute for Infection, Immunity and Inflammation; Radboud University Medical Centre; Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22519/fullpdf

Reference69 articles.

1. Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA;Awano;J Hum Genet,2010

2. Retrocopy contributions to the evolution of the human genome;Baertsch;BMC Genom,2008

3. LINEs and Alus-the polyA connection;Boeke;Nat Genet,1997

4. Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease;Bolscher;Blood,1991

5. An X-to-autosome retrogene is required for spermatogenesis in mice;Bradley;Nat Genet,2004

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