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- W2039450526 abstract "Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. The results support the hypothesis that severe, early-onset neuropathy may be related to either an alteration of a conserved amino acid or a disruption of the tertiary structure of myelin protein zero." @default.
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- W2039450526 date "2006-12-01" @default.
- W2039450526 modified "2023-10-10" @default.
- W2039450526 title "New mutation of theMPZ gene in a family with the Dejerine–Sottas disease phenotype" @default.
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- W2039450526 doi "https://doi.org/10.1002/mus.20703" @default.
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