A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
Authors: Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A.
Published in: Acta Biochimica Polonica
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology
SJR best quartile: Q3