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Reference

Title Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Authors Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH
Reference Science 262: 2039-2042, 1993 (PubMed ID: 8266101 )
GJB1 (Cx32): (Gly12Ser) (Val139Met) (Arg142Trp) (Leu156Arg) (Pro172Ser) (Asn175fs) (Glu186Lys)
Mutations

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