...PMP22 plasmid was confirmed to have a 305bp PMP22 fragment by EcoRI-XhoI dual digestion. Compared to the control group, ...
...PMP22 duplication/deletion, GJB1/Cx32 or MPZ/P0 mutation) were responsible for 89.3% of demyelinating CMT index patients...
...PMP22 mutation and heterozygous deletion of PMP22 on chromosome 17 (17p11.2-p12) resulting in a severe sensorimotor poly...
...PMP22 duplication (13.5%) was predominant in this group of patients, followed by PMP22 deletion (11.5%), and point mutat...
...PMP22, improved motor function and increased the numbers of myelinated peripheral nerve axons in a mouse model of CMT1A....
...PMP22) gene deletions. The combination of PMP22 gene mutations with other genetic variants is known to cause a more seve...
...PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glo...
...PMP22, BEX2, CGREF1, CYR61), were associated with cell cycle arrest and growth regulation and had been previously identi...
...PMP22. This study reports a woman with a family history of CMT1A due to PMP22 duplication. However, she presented with a...
PMP22 is a transmembrane glycoprotein component of myelin, important for myelin functioning. Mutation of PMP22 gene whic...
联系地址
山东省济南市章丘区文博路2号
齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号
大学科技园北区F座4单元2楼
电话： 0531-88819269
版权所有 © 2026.Genelibs 济南弘晖生物技术有限公司 鲁ICP备20007159号-2
