A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

• Principais autores: Hossein Esmaeilzadeh (Autor), Mohammad Reza Bordbar (Autor), Hassan Dastsooz (Autor), Mohammad Silawi (Autor), Mohammad Ali Farazi Fard (Autor), Ali Adib (Autor), Ali Kafashan (Autor), Zahra Tabatabaei (Autor), Forough Sadeghipour (Autor), Mohammad Ali Faghihi (Autor)
• Formato: Livro
• Publicado em: BMC, 2018-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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...