genemutation相关论文
先天性心血管疾病是一类由于遗传、环境及妊娠期感染等多因素相互作用而导致的先天性疾病，但确切的病因迄今尚不清楚。随着研究的逐......
目的:总结报道中国第2例DeSanto-Shinawi脑病(DESSH)患儿的临床特点和致病的n WAC基因突变谱。n 方法:采用回顾性分析对1......
目的:探讨表皮生长因子受体（EGFR）基因不同突变状态非小细胞肺癌（NSCLC）患者临床特征及疗效的差异。方法:回顾性分析2018年4月至2020年......
目的:总结1例泛素样修饰剂活化酶5(n UBA5)基因突变导致发育性癫痫性脑病(DEE)患儿的临床特征及基因突变特点，并进行文献复习......
遗传因素是难治性癫痫的重要病因。多数情况下，基因突变导致的癫痫无法被现有的抗癫痫药物所控制。生酮饮食通过多靶点作用机制控制......
目的:探讨初诊急性髓系白血病（AML）患者的基因突变分布特点及其与预后的关系。方法:回顾性分析2016年5月至2019年12月就诊于空军军医......
目的:探讨基因突变阴性的儿童原发性血小板增多症（ET）的临床特征和诊治方法。方法:收集中国医学科学院血液病医院收治的1例突变基因......
KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A, which is a type of autosomal dominant non-......
Study on the Gene Mutation in vitro Mammalian Cell Induced by [2, 3, 5, 6-tetrafluoro-4-(methoxymeth
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Concordance of Mutation Result of Multi-gene Panel between Paired Fresh Frozen Tissue and Formalin F
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Thestudyaimsto identifynovelgenemutationsinosteosarcomaandtoguideindividualizedpreoperativechemotherapyforosteosarcomaba......
Analyses of clinicopathological features and survival of gastric cancer patients with RHOA mutations
Objective The TCGA molecular classification of gastric cancer(GC)were published in 2014,in which GC can be classified in......
目的 The epidemiological,clinical,and pathological features； molecular pathways； and prognosis of colorectal cancer(CRC)de......
Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency: a Single Center E
Rationale: Severe combined immunodeficiency (SCID), a rare PID, is poorly characterized in China.We retrospectively revi......
Clinical andGene Mutation Analysis in Chinese Patients With Methylmalonic Acidemia and Homocystinemi
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Aim To identify the mutations associated with congenital cataract in a Chinese family and study the functional effects o......
The role of OATP1B1 in the pharmacokinetics of glinides and DDIs between glinides and other clinical
Objectives The aim of this review is to provide useful information not only for studying the effect of OATP1B1 gene muta......
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Correlation between Sp1 Binding Site Mutation of Survivin Promoter and Expression of Survivin in Bre
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Identification of naturally occurring HBc mutations that compensate the replication fitness of a lam
Hepatitis B virus replicates through an RNA intermediate.The lack of proofreading capacity of the viral DNA polymerase,c......
Objective: To analyze the heterogeneity of in frequent symptoms among Chinese children with methylmalonicaciduria (MMA)o......
Objectives: Animal studies have shown that knockout of the transforming growth factor beta 2 (TGFβ2) gene results in di......
Objective To discuss the width frontalis muscle flap suspension in treatment of severe blepharoptosis effect.Method 52 e......
The Factors Resulted in Drug Resistance in Plamodium falciparum Infection Therapy-A Systematic Revie
Objectives: To generate pooled analyses to understand the impact of inadequate drugs in key subpopulations,and to provid......
The activity,structure and related function of key enzymes-[FeFe]-hydrogenase is discussed in this paper,which capable o......
Introduction It was found that 70–80%of patients with myelodysplastic syndrome(MDS)have at least one mutation.Gene muta......
Purpose To identify the spectrum of RB1 gene mutation in Chinese retinoblastoma(RB)patients Methods A total of 38 RB pat......
KIF11 gene mutation is causative of a rare autosomal dominant inheritable disease called microcephaly,lymphedema and cho......
Targeted genomic capture and massively parallel sequencing to identify novel mutations causing hered
Background: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involve......
Propofol inhibits bERG K+ channels and enhances the inhibition effects on its mutations in HEK293 ce
QT prolongation, a potential risk for arrhythmias, may result from the polymorphism of genes relevant to heart cell repo......
Purpose To know phosphatidylinositol-3-kinase catalytic α (PIK3CA) mutation in small cell lung cancer (SCLC).Materials ......
Analysis of ADAR gene mutation and a case report in a family with dyschromatosis symmetrica heredita
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Two novel mutations identified in PKHD1 gene from parents of two fetuses with infantile polycystic k
Autosomal recessive polycystic kidney disease(ARPKD)is a severe genetic disorder that predominantly affects the kidneys ......
Objective Combined small cell lung cancer (CSCLC) is currently considered a subset of SCLC and have been reported to acc......
Epidermal growth factor receptor mutation in small cell lung cancer patients detected by mutant-enri
Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) has been widely used in non-small cell lung canc......
A Novel Type Heterozygous Mutation in the Glucose-6-Phosphatase Gene in a Chinese Patient with Glyco
Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). By g......
Mutationsingenesencodingkeyplayersinoncogenicsignalingpathwaystriggerspecificdownstreamgeneexpressionprofilesintherespec......
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