ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.
Masè G, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, Rolfo M, Zanconati F, Sepcic J, Jurjevic A, Pirulli D, Boniotto M, Zezlina S, Crovella S, Amoroso A.
Masè G, et al. Among authors: rolfo m.
J Neurol Sci. 2001 Oct 15;191(1-2):11-8. doi: 10.1016/s0022-510x(01)00625-6.
J Neurol Sci. 2001.
PMID: 11676987