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Solid phase testing in the HLA laboratory: implications for organ allocation

✍ Scribed by D. D. Eckels


Book ID
114831519
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
114 KB
Volume
35
Category
Article
ISSN
1744-3121

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Diagnosis of CMT1A duplications and HNPP
✍ Shaffer, Lisa G.; Kennedy, Gilbert M.; Spikes, Aimee S.; Lupski, James R. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 224 KB πŸ‘ 2 views

## 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