Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia GeneSLX4/FANCP-Reference-Cited by-同舟云学术

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia GeneSLX4/FANCP

Published:2012-10-16 Issue:1 Volume:34 Page:93-96
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Schuster Beatrice¹,Knies Kerstin¹,Stoepker Chantal²,Velleuer Eunike³,Friedl Richard¹,Gottwald-Mühlhauser Birgit¹,de Winter Johan P.²,Schindler Detlev¹

Affiliation:

1. Department of Human Genetics; University of Wuerzburg; Wuerzburg; Germany

2. Department of Clinical Genetics; Vrije Universteit (VU) Medical Center; Amsterdam; The Netherlands

3. Department of Pediatric Hematology; Oncology and Clinical Immunology; University of Duesseldorf School of Medicine; Duesseldorf; Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22221/fullpdf

Reference18 articles.

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2. Fanconi anemia diagnosis and the diepoxybutane (DEB) test;Auerbach;Exp Hematol,1993

3. A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain;Callen;Blood,2005

4. Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia;Crossan;Nat Genet,2011

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