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Duplications and deletions of the humanIGHClocus: evolutionary implications

✍ Scribed by H. Rabbani; Qiang Pan; Naomi Kondo; C. I. Edvard Smith; Lennart Hammarström

Book ID: 105948397
Publisher: Springer-Verlag
Year: 1996
Tongue: English
Weight: 142 KB
Volume: 45
Category: Article
ISSN: 0093-7711
DOI: 10.1007/s002510050181

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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