TY  - GEN
AU  - Wang,Cui
AU  - Xu,Hongliang
AU  - Yuan,Yun
AU  - Lian,Yajun
AU  - Xie,Nanchang
AU  - Ming,Liang
TI  - Novel compound heterozygous mutations causing Kufs disease type B
SN  - 1563-5279
PY  - 2018///0907
KW  - Adult
KW  - Cathepsin F
KW  - genetics
KW  - Codon, Nonsense
KW  - Female
KW  - Humans
KW  - Mutation, Missense
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - diagnosis
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1080/00207454.2017.1403439
ER  -