title: A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
authors.affiliation: Chair and Department of Medical Genetics, Karol Marcinkowski University of Medical Sciences, Poznan, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Kochanski
authors.forename: A
authors.initials: A
authors.lastname: Lofgren
authors.forename: H
authors.initials: H
authors.lastname: Jedrzejowska
authors.forename: B
authors.initials: B
authors.lastname: Ryniewicz
authors.forename: M
authors.initials: M
authors.lastname: Czarny-Ratajczak
authors.forename: A
authors.initials: A
authors.lastname: Barciszewska
authors.forename: J
authors.initials: J
authors.lastname: Samocko
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: A
authors.initials: A
authors.lastname: Latos-Bielenska
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D004247:DNA; D000097002:Gap Junction beta-1 Protein