Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A*
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چکیده
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چکیده ندارد.
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متن کاملPMP22 expression in dermal nerve myelin from patients with CMT1A.
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 Mb duplication on chromosome 17p11.2, which contains the peripheral myelin protein-22 (PMP22) gene. Increased levels of PMP22 in compact myelin of peripheral nerves have been demonstrated and presumed to cause the phenotype of CMT1A. The objective of the present study was to determine whether an extra copy of the PMP22 gene in CMT1A...
متن کاملTransgenic mouse models and human neurodegenerative disorders.
T he development of new methods for manipulating the mouse genome by transgenic and gene-targeting technologies has dramatically increased our ability to create mouse models for human genetic diseases. These mouse models have greatly facilitated the understanding of the pathogenesis of some human diseases and are beginning to be used in screening of therapeutic agents. In this review, we outlin...
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ژورنال
عنوان ژورنال: Journal of Anatomy
سال: 2002
ISSN: 0021-8782,1469-7580
DOI: 10.1046/j.1469-7580.2002.00039.x