A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families-Reference-Cited by-同舟云学术

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

Published:2017-11-22 Issue:2 Volume:39 Page:237-254
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kimble Danielle C.¹,Lach Francis P.²,Gregg Siobhan Q.²,Donovan Frank X.¹,Flynn Elizabeth K.¹,Kamat Aparna¹,Young Alice³,Vemulapalli Meghana³,Thomas James W.³,Mullikin James C.³,Auerbach Arleen D.⁴,Smogorzewska Agata²,Chandrasekharappa Settara C.¹^ORCID

Affiliation:

1. Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; Bethesda Maryland

2. Laboratory of Genome Maintenance; The Rockefeller University; New York New York

3. NIH Intramural Sequencing Center; National Human Genome Research Institute; Bethesda Maryland

4. Human Genetics and Hematology Program; The Rockefeller University; New York New York

Funder

National Human Genome Research Institute

National Institutes of Health

National Heart Lung and Blood Institute

National Center for Advancing Translational Sciences

Clinical and Translational Science Award

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference43 articles.

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3. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study;Alter;British Journal of Haematology,2010

4. Genetic subtyping of Fanconi anemia by comprehensive mutation screening;Ameziane;Human Mutation,2008

5. High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: Implication for diagnosis;Amouri;Molecular Genetics and Genomic Medicine,2014

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