J
Jin Xin
Researcher at Chinese PLA General Hospital
Publications - 3
Citations - 56
Jin Xin is an academic researcher from Chinese PLA General Hospital. The author has contributed to research in topics: Missense mutation & Exome. The author has an hindex of 3, co-authored 3 publications receiving 42 citations.
Papers
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Journal ArticleDOI
A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
Liu Tiecheng,Jin Xin,Xuemin Zhang,Huijun Yuan,Jing Cheng,Janet Lee,Baoquan Zhang,Maonian Zhang,Wu Jing,Lijuan Wang,Geng Tian,Weifeng Wang +11 more
TL;DR: A novel missense mutation, c.2653C>G transition (p.Q885E), in exon 20 of SNRNP200 was identified, suggesting that hBrr2-dependent small nuclear riboproteins (snRNPs) unwinding and spliceosome activation is important in the pathogenesis of some variants of RP.
Journal ArticleDOI
Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation
TL;DR: Vitreous opacity is very common in patients with the TTR Gly83Arg mutation; other clinical characteristics associated with the mutation include polyneuropathy and cardiac amyloidosis.
Patent
SNRNP200 gene mutant and application thereof
Liu Tiecheng,Jin Xin,Zhang Xuemin,Baoquan Zhang,Wu Jing,Xiao Ruo,Wang Jun,Wang Jian,Yang Huanming +8 more
TL;DR: In this paper, an isolated nucleic acid for coding an SNRNP200 mutant, an isolated polypeptide, a method, system and kit for screening a biological sample which is susceptible to the primary pigmentary degeneration of the retina and a method for screening medication for treating or preventing the retina.