TY  - GEN
AU  - Zhang,Da
AU  - Lu,Lin
AU  - Yang,Hong-Bo
AU  - Li,Mei
AU  - Sun,Hao
AU  - Zeng,Zheng-Pei
AU  - Li,Xin-Ping
AU  - Xia,Wei-Bo
AU  - Xing,Xiao-Ping
TI  - Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease
SN  - 2542-5641
PY  - 2013///0102
KW  - Adolescent
KW  - Exome
KW  - genetics
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Polycystic Kidney, Autosomal Recessive
KW  - Receptors, Cell Surface
N1  - Publication Type: Case Reports; Journal Article
ER  -