Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott–Aldrich syndrome

BACKGROUND: Wiskott–Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the WAS protein (WASp) due to mutations in the WAS gene, and is generally characterized by microthrombocytopenia, eczema, recurrent infections, and high susceptibility to autoimmu...

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Detalles Bibliográficos
Autores principales: Ji, Xin, Hou, Xuening, Guo, Xin, Sun, Yifeng, Ma, Futian, Hao, Jihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9783790/
https://www.ncbi.nlm.nih.gov/pubmed/36550574
http://dx.doi.org/10.1186/s13023-022-02589-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9783790/
https://www.ncbi.nlm.nih.gov/pubmed/36550574
http://dx.doi.org/10.1186/s13023-022-02589-y

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