Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations

Hum Mutat. 1997;9(1):47-52. doi: 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M.

Authors

E Nelis¹, S Simokovic, V Timmerman, A Löfgren, H Backhovens, P De Jonghe, J J Martin, C Van Broeckhoven

Affiliation

¹ Born Bunge Foundation, University of Antwerp, Department of Biochemistry, Belgium.

PMID: 8990008
DOI: 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Charcot-Marie-Tooth Disease / genetics*
Connexins / genetics*
Female
Gap Junction beta-1 Protein
Humans
Male
Mutation*
Pedigree
Polymorphism, Single-Stranded Conformational

Substances

Connexins