Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Introduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations with...

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Autores principales: Doina TURCAN, Lucia ANDRIES, Alexandr DORIF, Victoria SACARA
Formato: article
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Publicado: Asociatia de Biosiguranta si Biosecuritate 2021
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Acceso en línea:https://doaj.org/article/7a8d87db532b4782af038dc2d666bd34
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