A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease

Hum Mutat. 2001 Feb;17(2):157. doi: 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E.

Authors

A Kochanski¹, A Lofgren, H Jedrzejowska, B Ryniewicz, M Czarny-Ratajczak, A Barciszewska, J Samocko, I Hausmanowa-Petrusewicz, P De Jonghe, V Timmerman, A Latos-Bielenska

Affiliation

¹ Chair and Department of Medical Genetics, Karol Marcinkowski University of Medical Sciences, Poznan, Poland.

PMID: 11180613
DOI: 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E

No abstract available

Publication types

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

MeSH terms

Charcot-Marie-Tooth Disease / genetics*
Connexins / genetics*
DNA / chemistry
DNA / genetics
DNA Mutational Analysis
Family Health
Female
Gap Junction beta-1 Protein
Humans
Male
Mutation, Missense

Substances

Connexins
DNA