A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene-Reference-Cited by-同舟云学术

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A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene

Published:2014-10-18 Issue:1 Volume:95 Page:93-98
ISSN:0902-4441
Container-title:European Journal of Haematology
language:en
Short-container-title:Eur J Haematol

Author:

Gulácsy Vera¹,Soltész Beáta¹,Petrescu Carmen²,Bataneant Mihaela²,Gyimesi Edit³,Serban Margit²,Maródi László¹,Tóth Beáta¹

Affiliation:

1. Department of Infectious Diseases and Pediatric Immunology; Faculty of Medicine; University of Debrecen; Debrecen Hungary

2. Department of Public Health; School of Medicine; V. Babeş University of Medicine & Pharmacy Timişoara; Timişoara, Romania

3. Division of Clinical Immunology; Institute of Internal Medicine; Faculty of Medicine; University of Debrecen; Debrecen; Hungary

Publisher

Wiley

Subject

Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ejh.12424/fullpdf

Reference23 articles.

1. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment;Ochs;Biol Blood Marrow Transplant,2009

2. Wiskott-Aldrich syndrome;Notarangelo;Curr Opin Hematol,2008

3. New insights into the biology of Wiskott-Aldrich syndrome (WAS);Thrasher;Hematology Am Soc Hematol Educ Program,2009

4. WASP: a key immunological multitasker;Thrasher;Nat Rev Immunol,2010

5. Structure and function of the Wiskott-Aldrich syndrome protein;Ochs;Curr Opin Hematol,2005

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1. A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family;International Journal of Genomics;2024-02-19

2. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021;Frontiers in Immunology;2022-12-16

3. A novel mutation inSLC39A7identified in a patient with autosomal recessive agammaglobulinemia: The impact of the J Project;Pediatric Allergy and Immunology;2022-06

4. Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes;International Journal of Molecular Sciences;2020-06-30

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