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Lack of Deletions of the PTEN/MMAC1 and MXI1 Loci in Renal Cell Carcinoma by Interphase Cytogenetics


Book ID
114137034
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
88 KB
Volume
118
Category
Article
ISSN
0165-4608

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Diagnosis of CMT1A duplications and HNPP
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## Charcot -Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb regio