Shapira, Yehuda

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X

Shapira, Yehuda, Sadeh, Menachem , Bergtraum, M.P., Tsujino, Akira, Ohno, Kinji , Shen, Xin‐Ming , Brengman, Joan M., Edwardson, S., Matoth, I., Engel, Andrew G.

Neurology | May 13, 2012 | Volume: 58 | Issue: 4 | Pages: 603-609

10.1212/wnl.58.4.603