Detection of 28 novel mutations in the Wiskott–Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR-Reference-Cited by-同舟云学术

Detection of 28 novel mutations in the Wiskott–Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR

Published:2007-07 Issue:1 Volume:39 Page:102-106
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Proust Alexis,Guillet Benoît,Picard Capucine,de Saint Basile Geneviève,Pondarré Corinne,Tamary Hannah,Dreyfus Marie,Tchernia Gil,Fischer Alain,Delaunay Jean

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference20 articles.

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2. Primary immunodeficiency diseases: an update;Notarangelo;J. Allergy Clin. Immunol.,2004

3. The Wiskott–Aldrich syndrome;Ochs;J. Allergy Clin. Immunol.,2006

4. Familiärer, angeborener Morbus Werlhofii?;Wiskott;Monatsschr. Kinderheilkd.,1937

5. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea;Aldrich;Pediatrics,1954

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1. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival;Blood;2024-06-13

2. X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation;Blood Cells, Molecules, and Diseases;2013-08

3. The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism;European Journal of Haematology;2011-08-11

4. Wiskott-Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis;Pediatric Blood & Cancer;2011-02-23

5. Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott–Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations;Journal of Clinical Immunology;2010-03-16