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| PubMed | |
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Article by WU Yao-qun |
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Article by ZHANG Xue-jun |
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Article by YANG Sen |
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�ɱ��Ժ�߽�Ƥ����һ�ֺ����ij�Ⱦɫ�������Ŵ���Ƥ����,�Կɱ��Ƭ״��ߺ̶��Ľǻ������߿�Ϊ����,��Ҫ��GJB3��GJB4����ͻ������,�����Ŵ������ԡ��������Կɱ��Ժ�߽�Ƥ���ķ����Ŵ�ѧ���о�,��������λ��ṹ�����뵰�Ľṹ�빦�ܡ�ͻ������Լ��Թ��ܵ�Ӱ���ȡ���˺ܴ��չ,Ϊ�ò�������������ƴ������õ�������
Molecular Genetics in Erythrokeratodermia Variabilis
Institute of Dermatology, Departmrnt of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei 230032, China
Institute of Dermatology, Departmrnt of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei 230032, China
Erythrokeratodermia variabilis is a rare autosomal dominant genodermatosis characterized by transient erythema and fixed hyperkeratotic plaques. The disorder is genetically heterogeneous and may be associated with the mutations in GJB3 and GJB4 genes encoding connexin (Cx)31 and Cx30.3, respectively. Recently great advancement has been made in the research of molecular genetics in erythrokeratodermia variabilis, including the gene location and structure, the structure and function of encoding proteins, the gene mutation and its effects, which will lay a sound foundation for gene diagnosis and therapy of erythrokeratodermia variabilis.
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