TY  - GEN
AU  - Liu,Sanmei
AU  - Xie,Lan
AU  - Yue,Jun
AU  - Ma,Tao
AU  - Peng,Chunyan
AU  - Qiu,Biyuan
AU  - Yang,Zhenglin
AU  - Yang,Jiyun
TI  - Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa
SN  - 1791-244X
PY  - 2017///0228
KW  - AC133 Antigen
KW  - genetics
KW  - Adult
KW  - Case-Control Studies
KW  - Exome
KW  - Family
KW  - Female
KW  - Frameshift Mutation
KW  - Genes, Recessive
KW  - Genetic Association Studies
KW  - Genotype
KW  - High-Throughput Nucleotide Sequencing
KW  - Homozygote
KW  - Humans
KW  - Leukocytes, Mononuclear
KW  - metabolism
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Retinitis Pigmentosa
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.3892/ijmm.2016.2551
ER  -