A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease

by Yi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, Ju-Li Lin, Chih-Kuang Chuang, Jen-Daw Tsai, Nan-Chang Chiu, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2017-02-01