[Analysis of the molecular pathogenesis of hereditary protein C deficiency due to a p.Gly86Asp variant of the PROC gene] [0.03%]
PROC基因p.Gly86Asp变异所致遗传性蛋白C缺乏的分子发病机制分析
Shuting Jiang,Huanhuan Wang,Meina Liu et al.
Shuting Jiang et al.
Objective: To explore the molecular pathogenesis of hereditary protein C (PC) deficiency due to a p.Gly86Asp variant of the PROC gene through in vitro expression experiment. ...
[Clinical and genetic analysis of three children with 22q13 deletion syndrome] [0.03%]
22q13缺失综合征的临床和遗传分析报告3例
Junyu Wang,Ruoyu Duan,Huifang Yan et al.
Junyu Wang et al.
Objective: To explore the clinical and genetic characteristics of three children with 22q13 deletion syndrome. Methods: Clinical data w...
[Genotypic and hematological characteristics of 83 β-thalassemia mutation carriers and patients from Henan Province] [0.03%]
河南省83例β-地贫突变携带者和患者的基因型及血液学特征分析
Weilin Wang,Xiaoming Zhao,Songting Bai et al.
Weilin Wang et al.
Objective: To investigate the genotypic and hematological characteristics of β-thalassemia patients and carriers from Henan Province of China. Methods: ...
[Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China] [0.03%]
中国中部地区67例杜氏肌营养不良家系的产前诊断分析
Zhi Gao,Lina Liu,Yanli Wang et al.
Zhi Gao et al.
Objective: To retrospectively analyze the results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy (DMD) from the Central Plain Region of China and explore the optimal diagnostic strategy. ...
[Partial research progress of GGCX pathogenic variation associated phenotypes] [0.03%]
GGCX致病变异相关表型的初步研究进展
Guomin Shen,Hongli Liu,Yan Shen et al.
Guomin Shen et al.
γ-glutamyl carboxylase (GGCX), also known as vitamin K-dependent glutamyl carboxylase, catalyzes the posttranslational modification of specific glutamate residues in vitamin K-dependent proteins (VKDPs), and participates multiple biologica...
[Correlation of polymorphisms of DNA double-strand break repair genes XRCC5, LIG4 and glioma] [0.03%]
DNA双链断裂修复基因XRCC5、LIG4多态性与胶质瘤相关性的病例对照研究
Peng He,Ran Li,Wenkai Luo et al.
Peng He et al.
Objective: To assess the association of DNA double-strand break repair genes XRCC5 and LIG4 with glioma. Methods: 126 patients with gli...
[Analysis of B antigen weaken expression caused by nucleotide mutations in the promoter of ABO gene] [0.03%]
ABO基因启动子核苷酸突变导致B抗原弱表达的分析
Li Feng,Ting He,Jun Han et al.
Li Feng et al.
Objective: To investigate the molecular mechanism of B antigen weaken expression in 4 cases of ABO blood group samples. Methods: ABO bl...
Lijun Rong,Wei Xing,Lin Li
Lijun Rong
Objective: To investigate the genetic cause for an infant with mental retardation through molecular cytogenetic analysis. Methods: Conv...
[Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome] [0.03%]
[KMT2A基因新移码突变一例魏德曼-史坦纳综合征患儿的基因诊断]
Ruohao Wu,Wenting Tang,Kunyin Qiu et al.
Ruohao Wu et al.
Objective: To analyze pathogenic variant s of KMT2A gene in a child with Wiedemann-Steiner syndrome (WDSTS) and provide reliable evidences for clinical diagnosis of WDSTS. ...
[Analysis of pathogenic gene variant in two children with Treacher-Collins syndrome] [0.03%]
两个Treacher-Collins综合征患儿致病基因变异分析
Jie Wang,Xiaoping Ji,Lichun Zhang et al.
Jie Wang et al.
Objective: To explore the clinical and genetic characteristics of two children with a clinical diagnosis of Treacher Collins syndrome (TCS). Methods: ...