MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts-Reference-Cited by-同舟云学术

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MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts

Published:2013-11-28 Issue:23 Volume:122 Page:3844-3845
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Alsultan Abdulrahman¹,Shamseldin Hanan E.²,Osman Mohamed Elfaki¹,Aljabri Mansour³,Alkuraya Fowzan S.⁴²

Affiliation:

1. Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia

2. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

3. Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

4. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/23/3844/1464656/3844.pdf

Reference9 articles.

1. Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes.;Teo;Pediatrics,2008

2. Autozygome decoded.;Alkuraya;Genet Med,2010

3. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.;Shamseldin;J Med Genet,2012

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3. Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant;Journal of Clinical Immunology;2023-12-22

4. MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks;Journal of Allergy and Clinical Immunology;2023-12

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