Title of article
IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID
Author/Authors
Safaei، Sepideh نويسنده Immunology, Asthma & Allergy Research Institute , Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Safaei, Sepideh , Pourpak، Zahra نويسنده , , Moin، Mostafa نويسنده , , Houshmand، Massoud نويسنده ,
Issue Information
فصلنامه با شماره پیاپی 0 سال 2011
Pages
4
From page
129
To page
132
Abstract
SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing.
Our results indicated that 13 mutations were found through cases which include 4 mutations in IL7R gene (T661I, I138V, T56A, C57W), 7 mutations in RAG1 (W896X, W204R, M324V, T731I, M1006V, K820R, and R249H), and 2 mutations in RAG2 gene (R229W, ΔT251).
Journal title
Iranian Journal of Allergy, Asthma and Immunology
Serial Year
2011
Journal title
Iranian Journal of Allergy, Asthma and Immunology
Record number
2386314
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