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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome 总被引:17,自引:0,他引:17
Mnatzakanian GN Lohi H Munteanu I Alfred SE Yamada T MacLeod PJ Jones JR Scherer SW Schanen NC Friez MJ Vincent JB Minassian BA 《Nature genetics》2004,36(4):339-341
Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome. 相似文献