|
|
|
|
Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients
|
|
|
|
|
|
|
|
نویسنده
|
Safaei Sepideh ,Fazlollahi Mohammad Reza ,Houshmand Masoud ,Hamidieh Amir Ali ,Bemanian Mohammad Hassan ,Alavi Samin ,Mousavi Farideh ,Pourpak Zahra ,Moin Mostafa
|
|
منبع
|
iranian journal of allergy, asthma and immunology - 2012 - دوره : 11 - شماره : 4 - صفحه:345 -348
|
|
چکیده
|
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
|
|
کلیدواژه
|
Mutations ,Thrombocytopenia ,Wiskott-Aldrich syndrome
|
|
آدرس
|
tehran university of medical sciences tums, Immunology, Asthma and Allergy Research Institute, ایران, tehran university of medical sciences tums, Immunology, Asthma and Allergy Research Institute, ایران, National Institute of Genetic Engineering and Biotechnology, ایران, tehran university of medical sciences tums, Hematology-Oncology & Stem Cell Transplantation Research Center, ایران, yazd shahid sadoghi university of medical sciences, Shaheed Sadoghi Hospital, Department of pediatrics , Division of Allergy and clinical Immunology, ایران, shahid beheshti university of medical sciences, Mofid Children's Hospital, Pediatric Congenital Hematologic Disorders Research Center, ایران, shahid beheshti university of medical sciences, Shohada Center Hospital, Department of Pediatrics, ایران, tehran university of medical sciences tums, Immunology Asthma and Allergy Research Institute, ایران, tehran university of medical sciences tums, Immunology, Asthma, and Allergy Research Institute, ایران
|
|
پست الکترونیکی
|
mmoin@sina.tums.ac.ir
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Authors
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|