Article
A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report.
BMC medical genetics - 20 Jul 2018
Esmaeilzadeh Hossein, Bordbar Mohammad Reza, Dastsooz Hassan, Silawi Mohammad, Fard Mohammad Ali Farazi, Adib Ali, Kafashan Ali, Tabatabaei Zahra, Sadeghipour Forough, Faghihi Mohammad Ali
Abstract excerpt
BACKGROUND: Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization, signaling pathways, and cytoskeletal rearrangement. Therefore, the impaired protein or its absence cause phenotypic spectrum of the disease. Since identification of novel mutations in WAS...
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