A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene

The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype observed in this syndrome is caused by mutation in the WAS gene. Peripheral blood DNAs were isolated from an 18-month-old boy with WAS and his m...

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Detalles Bibliográficos
Autores principales: Park, Sook-Kyung, Kim, Chun-Soo, Song, Dae-Kyu, Kim, Joo-Young, Choi, In-Jang, Kim, Dae-Kwang
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2007
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694638/
https://www.ncbi.nlm.nih.gov/pubmed/18162713
http://dx.doi.org/10.3346/jkms.2007.22.6.998

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