(2012) Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients. Iranian Journal of Allergy, Asthma and Immunology. pp. 345-348. ISSN 17355249 (ISSN)
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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. © 2012, Iranian Journal of Allergy, Asthma and Immunology. All rights reserved.
| Item Type: | Article |
|---|---|
| Keywords: | Mutations Thrombocytopenia Wiskott-Aldrich syndrome Case-Control Studies DNA Mutational Analysis Exons Genetic Predisposition to Disease Humans Iran Male Mutation Polymerase Chain Reaction Wiskott-Aldrich Syndrome Protein amino acid substitution article clinical article controlled study exon gene gene deletion gene insertion gene mutation human missense mutation mutational analysis nucleotide sequence sequence analysis stop codon WASP gene Wiskott Aldrich syndrome |
| Page Range: | pp. 345-348 |
| Journal or Publication Title: | Iranian Journal of Allergy, Asthma and Immunology |
| Volume: | 11 |
| Number: | 4 |
| ISSN: | 17355249 (ISSN) |
| Depositing User: | Mr mahdi sharifi |
| URI: | http://eprints.ssu.ac.ir/id/eprint/32540 |
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