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Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A

✍ Scribed by Tomoya Nishimura; H. Yoshikawa; Harutoshi Fujimura; Saburo Sakoda; Takehiko Yanagihara


Publisher
Springer-Verlag
Year
1996
Tongue
English
Weight
633 KB
Volume
92
Category
Article
ISSN
0001-6322

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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