| 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 |
