Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Reference

Title Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Authors Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR
Reference Am J Hum Genet 68: 325-333, 2001 (PubMed ID: 11133365 )
PRX: (Thr102Thr) ([Arg368X]+[Val763fs]) (Ala406Thr) (Glu495Gln) (Pro497Pro) (Val882Ala) (Pro885Pro) (Ile921Met) ([Ser929fs]+[Ser929fs]) ([Ser929fs]+[Arg953X]) (Pro1083Arg) (Gly1132Arg) (Glu1259Lys) (Glu1359del)
Mutations

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