Inherited Peripheral Neuropathies Mutation Database

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Title Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
Authors Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I
Reference Nat Genet 13: 485-488, 1996 (PubMed ID: 8696348 )
NTRK1 (TRKA): ([Arg554fs]+[Arg554fs]) ([Gly577Arg]+[Gly577Arg]) ([5'-splice site]+[5'-splice site])

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