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Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.

Authors
  • Kurihara, S
  • Adachi, Y
  • Imai, C
  • Araki, H
  • Hattori, N
  • Numakura, C
  • Lin, Y
  • Hayasaka, K
  • Sobue, G
  • Nakashima, K
Type
Published Article
Journal
Journal of neurology, neurosurgery, and psychiatry
Publication Date
Oct 01, 2004
Volume
75
Issue
10
Pages
1492–1494
Identifiers
PMID: 15377707
Source
Medline
License
Unknown

Abstract

The high frequency of this peculiar genotype in the Tottori CMT population is presumably due to a founder effect, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.

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