Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. [electronic resource]
- Human mutation 1996
- 270-2 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1059-7794
10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.0.CO;2-# doi
Charcot-Marie-Tooth Disease--classification Connexins--genetics DNA Primers Deoxyribonucleases, Type II Site-Specific Female Humans Male Pedigree Point Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Gap Junction beta-1 Protein