TY  - GEN
AU  - Li,Qian
AU  - Zhang,Yongpeng
AU  - Jia,Liyun
AU  - Peng,Xiaoyan
TI  - A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome
SN  - 2542-5641
PY  - 2015///0825
KW  - Bardet-Biedl Syndrome
KW  - genetics
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Female
KW  - Humans
KW  - Microtubule-Associated Proteins
KW  - Proteins
N1  - Publication Type: Case Reports; Journal Article
ER  -