Whole Exome Sequencing of an X-linked Thrombocytopenia Patient with Normal Sized Platelets

Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive Primary Immunodeficiency (PID) caused by mutations in WAS gene which encodes a protein known as WASp. WASp plays important roles in cytoskeletal functions that compromise multiple aspects of normal cellular activity including proliferation,...

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Detalles Bibliográficos
Autores principales: Fathi, Majid, Shahraki, Hojat, Sharif Rahmani, Edris, Rahimi, Hamzeh, Omidi, Pouria, Darvishi, Saeedeh, Abazari, Mohammad Foad, Hosseini, Arshad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626504/
https://www.ncbi.nlm.nih.gov/pubmed/31379999

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