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...
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| 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
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2024/2277956 |
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