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| PubMed | |
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Article by LÜ Hong-li |
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Article by ZHANG Xue-jun |
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Article by YANG Sen |
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�Ŵ���Ѫ����ˮ������C1��ø���Ƽ�����ͻ�����µ�һ�ֺ����ij�Ⱦɫ�������Ŵ��Լ������ٴ�����Ϊ�����ԡ�������Ƥ�����Ĥˮ�ס��²�����λ��11q11-q13.1,������183��ͻ�䡣��������C1��ø���Ƽ�����ṹ��C1��ø���Ƽ�����ѧ���ܡ�����ͻ�������������ʶ,�������˸ò��Ķ���ģ�͡�
Molecular Genetics Progress of Hereditary Angioedema
Institute of Dermatology, Anhui Medical University, Hefei 230022, China
Institute of Dermatology, Anhui Medical University, Hefei 230022, China
Hereditary angioedema is a rare autosomal dominant genodermatosis caused by C1 inhibitor (C1 INH) gene mutations. The clinical feature of the disease is episodic local edema of skin or mucous membrane. Its causative gene has been mapped to chromosome 11q11-q13.1, and 183 mutations have been found up to now. Recent years, there has been a deep understanding about the gene structure, biologic functions, and mutations of C1INH, and the mouse model of the disease has been built.
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