| Title | A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease. |
|---|---|
| Authors | Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny-Ratajczak M, Barciszewska A, Samocko J, Hausmanowa-Petrusewicz I, De Jonghe P, Timmerman V, Latos-Bielenska A |
| Reference | Hum Mutat 17: 157, 2001 (PubMed ID: 11180613 ) |
| GJB1 (Cx32): (Glu208Gly) | |
| Mutations |