Tiecheng Liu Xin Jin Xuemin Zhang Huijun Yuan Jing Cheng Janet Lee Baoquan Zhang Maonian Zhang Jing Wu Lijuan Wang Geng Tian Weifeng Wang
10.1371/journal.pone.0045464
PLoS One
2012;7(9):e45464.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23029027/
Asian People / genetics Genes, Dominant Mutation, Missense Retinitis Pigmentosa / genetics Ribonucleoproteins, Small Nuclear / genetics
Asian People / genetics Genes, Dominant Mutation, Missense Retinitis Pigmentosa / genetics Ribonucleoproteins, Small Nuclear / genetics Case Reports Adult Aged Aged, 80 and over Amino Acid Sequence Amino Acid Substitution Base Sequence China Exons Family Female Humans Male Middle Aged Models, Molecular Molecular Sequence Data Ophthalmoscopes Pedigree Protein Conformation Ribonucleoproteins, Small Nuclear / chemistry Sequence Alignment Young Adult Ribonucleoproteins, Small Nuclear SNRNP200 protein, human
PMC3446876
23029027
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family
2012