A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Kochanski
A
A
Chair and Department of Medical Genetics, Karol Marcinkowski University of Medical Sciences, Poznan, Poland.
Lofgren
A
A
Jedrzejowska
H
H
Ryniewicz
B
B
Czarny-Ratajczak
M
M
Barciszewska
A
A
Samocko
J
J
Hausmanowa-Petrusewicz
I
I
De Jonghe
P
P
Timmerman
V
V
Latos-Bielenska
A
A
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
D017630:Connexins; D004247:DNA; D000097002:Gap Junction beta-1 Protein