Inherited Peripheral Neuropathies Mutation Database

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Reference

Title A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
Authors Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV
Reference Am J Hum Genet 67: 37-46, 2000 (PubMed ID: 10841809 )
NEFL: (Gln332Pro)
Mutations

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