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		题名	作者	年代	出处	被引量
	1	Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease显示文摘The form of Charcot-Marie-Tooth (CMT) neuropathy that maps to Xq13 is X-linked dominant, or X-linked intermediate. Heterozygous females are more mildly affected than hemizygous males. It has been known that this type of CMT is caused by mutations of connexin32 (Cx32) gene. A typical X-linked recessive Charcot-Marie-Tooth Chinese family was analyzed with single strand conformation polymorphism method. A Cx32 gene point mutation, Arg15Gln, in exon 2 was identified in all affected family members, suggesting that this mutation is responsible for the CMT incidence of this family.	TANGBeisha LUOWei ZHAOGuohua XIAOJianfeng LIQi MAYanlin XIAKun YANGQidong	2003	Progress in Natural Science:Materials International2003，13，6：	2

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