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Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1

โœ Scribed by Thomas Liehr; Holger Grehl; B. Rautenstrauss


Publisher
Springer-Verlag
Year
1997
Tongue
English
Weight
99 KB
Volume
94
Category
Article
ISSN
0001-6322

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โœ Dr. Hiroo Yoshikawa; Tomoya Nishimura; Yuji Nakatsuji; Harutoshi Fujimura; Masat ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 553 KB

The human peripheral myelin protein 22 (PMP-22) gene has been mapped to chromosome 1 7 ~1 1 . 2 in the duplicated region associated with Charcot-Marie-Tooth disease type 1A. Southern blot analysis using PMP-22 as a probe indicated that the PMP-22 gene was duplicated in 5 patients from unrelated Japa