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

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 impaire...

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Detalles Bibliográficos
Publicado en:BMC Med Genet
Main Authors: Esmaeilzadeh, Hossein, Bordbar, Mohammad Reza, Dastsooz, Hassan, Silawi, Mohammad, Fard, Mohammad Ali Farazi, Adib, Ali, Kafashan, Ali, Tabatabaei, Zahra, Sadeghipour, Forough, Faghihi, Mohammad Ali
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2018
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054734/
https://ncbi.nlm.nih.gov/pubmed/30029636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0647-0
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