Yoshimura, T

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