论文信息 - New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing - 字舞流文

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

M. Sousa | A. Fortuna | C. Egas | A. Gonçalves | Rosário Santos | H. Froufe | J. Oliveira | L. Negrão | R. Taipa | M. Melo‐Pires | I. Fineza