A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disease characterized by clinical symptoms such as eczema, thrombocytopenia with small platelets, immune deficiency, prone to autoimmune diseases, and malignant tumors. This disease is caused by mutations of the WAS gene encoding WA...

Full description

Saved in:
Bibliographic Details
Main Authors: Lingyu Wang, Jie Zhang, Linna Lu, Juan Ren, Yaofang Zhang, Lidong Zhao, Wukang Shen, Xucheng Hu, Shuai Fang, Xiaomei Lu, Gang Wang, Linhua Yang
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2024/2277956
Tags: Add Tag
No Tags, Be the first to tag this record!