•ATP7B变体P.MET645ARG通过促进外显子6跳动而引起威尔逊病:NPJ基因组医学中的出版物; Daniele Merico, Carl Spickett, Matthew OHara, Boyko Kakaradov, Amit G. Deshwar, Philip Fradkin , Shreshth Gandhi, Jiexin Gao, Solomon Grant, Ken Kron, Frank W. Schmitges, Zvi Shalev, Mark Sun, Marta Verby, Matthew Cahill, James J. Dowling, Johan Fransson, Erno Wienholds, Brendan J. Frey NPJ Genom。Med。5,16。