Title of article
Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.
Author/Authors
Safaei، Sepideh نويسنده Immunology, Asthma & Allergy Research Institute , Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Safaei, Sepideh , FAZLOLLAHI، MOHAMMAD REZA نويسنده , , Houshmand، Masoud نويسنده , , Hamidieh، Amir Ali نويسنده Hematology-Oncology & SCT Research Centre, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran Hamidieh, Amir Ali , Bemanian، Mohammad Hassan نويسنده , , Alavi، Samin نويسنده , , Mousavi، Farideh نويسنده , , Pourpak، Zahra نويسنده , , Moin، Mostafa نويسنده ,
Issue Information
فصلنامه با شماره پیاپی 0 سال 2012
Pages
4
From page
345
To page
348
Abstract
Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-Linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich syndrome was performed. Five previously reported mutations and six novel mutations including G8X, R41X, D283E, P412fsX446, E464X, and AfsX358 were detected.
Journal title
Iranian Journal of Allergy, Asthma and Immunology
Serial Year
2012
Journal title
Iranian Journal of Allergy, Asthma and Immunology
Record number
2389078
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