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Elsevier电子期刊(64)

在“Elsevier电子期刊”中，命中：64条，耗时：小于0.01 秒

在所有数据库中总计命中：106条

1.Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community

关键词：G6PD deficiency ; G6PD Cairo ; Favism ; Palestine ; Gaza

刊名：Blood Cells, Molecules and Diseases

出版年：2016

2.Rapid detection of G6PD mutations by multicolor melting curve analysis

作者：Zhongmin Xia^a ; ^b ; Ping Chen^c ; Ning Tang^d ; Tizhen Yan^d ; Yuqiu Zhou^e ; Qizhi Xiao^e ; Qiuying Huang^a ; ^{hqying@xmu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Qingge Li^a ; ^{qgli@xmu.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：G6PD ; glucose-6-phosphate dehydrogenase ; NADPH ; nicotinamide adenine dinucleotide phosphate ; ARMS ; amplification refractory mutation system ; DHPLC ; denaturing high-performance liquid chromatography ; RDB ; reverse dot blot assay ; HRM ; high-resolution melting ; MMCA ; multicolor melting curve analysis

刊名：Molecular Genetics and Metabolism

出版年：2016

3.A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY)

作者：Qian Li^a ; ¹ ; Xi Cao^a ; ^b ; ¹ ; Hai-Yan Qiu^a ; Jing Lu^a ; ^b ; Rui Gao^c ; Chao Liu^c ; Ming-Xia Yuan^a ; ^b ; Guang-Ran Yang^a ; Jin-Kui Yang^a ; ^b ; ^{jkyang@ccmu.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：MODY ; Maturity-onset diabetes of the young ; T1D ; type 1 diabetes ; T2D ; type 2 diabetes ; indels ; insertion-deletion ; NGS ; next-generation sequencing ; GCK ; glucokinase ; BMI ; body mass index ; PE ; paired-end ; PCR ; polymerase chain reaction ; G6PD ; glucose-6-phosphate dehydrogenase ; ICA ; islet cell antibodies ; GAD ; glutamic acid decarboxylase antibodies ; IAA ; insulin autoantibody ; FNR ; false-negative rate ; FPR ; false-positive rate ; HbA1c ; glycosylated hemoglobin A1c. DM ; diabetes mellitus ; OHA ; Oral H

刊名：Gene

出版年：2016

4.Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases

关键词：Hereditary spherocytosis ; Glucose-6-phosphate dehydrogenase deficiency ; Gilbert syndrome ; Alpha gene deletion

刊名：Clinica Chimica Acta

出版年：2016

5.Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer

作者：Lydie Da Costa^a ; ^b ; ^c ; ^d ; ^{lydie.dacosta@rdb.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Ludovic Suner^a ; Julie Galimand^a ; Amandine Bonnel^a ; Tiffany Pascreau^a ; Nathalie Couque^e ; Odile Fenneteau^a ; Narla Mohandas^f ; On behalf of the group of Socié ; té ; d'Hé ; matologie et d'Immunologie pé ; diatrique (SHIP)

关键词：AIHA ; auto-immune hemolytic anemia ; CBC ; complete blood count ; CDA ; congenital dyserythropoietic anemia ; CHCM ; Cell Hemoglobin Concentration Mean ; CV ; coefficient of variation ; DAT ; direct agglutination test ; DHSt ; dehydrated hereditary stomatocytosis (xerocytosis) ; DI ; deformability index ; EDTA ; ethylenediamine tetraacetic acid ; EI ; elongation index ; EMA ; eosin-5&prime ; maleimide ; G6PD ; glucose-6 phosphate dehydrogenase ; GPI ; glucose 6 phosphate isomerase ; Hb ; hemoglobin ; HE ; hereditary ellipto

刊名：Blood Cells, Molecules and Diseases

出版年：2016

6.Molecular newborn screening of four genetic diseases in Guizhou Province of South China

作者：Shengwen Huang^a ; ^{hsw713@sina.com" class="auth_mail" title="E-mail the corresponding author} ; Yin Xu^b ; Xingmei Liu^a ; Man Zhou^b ; Xian Wu^a ; Yankai Jia^c ; ^{yankaijia@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Beta-thalassemia ; G6PD deficiency ; PKU ; NSHL ; MALDI-TOF MS ; Newborn screening

刊名：Gene

出版年：2016

7.Two new class III G6PD variants [G6PD Tunis (c.920A > C: p.307Gln > Pro) and G6PD Nefza (c.968T > C: p.323 Leu > Pro)] and overview of the spectrum of mutations in Tunisia

作者：Ikbel Benmansour^a ; ^{ikbel.benmansour@planet.tn} ; Kamran Moradkhani^b ; ^c ; Imen Moumni^a ; Henri Wajcman^c ; Raouf Hafsia^d ; ^{raouf.hafsia@rns.tn} ; Abderraouf Ghanem^e ; ^{abderraouf.ghanem@rns.tn} ; Salem Abbè ; s^a ; Claude Pré ; hu^b ; ^c

关键词：G6PD deficiency ; G6PD mutations ; G6PG Tunis ; G6PD Nefza

刊名：Blood Cells, Molecules, and Diseases

出版年：2013

8.Three new mutations account for the prevalence of glucose 6 phosphate deshydrogenase (G6PD) deficiency in Tunisia

作者：B. Bendaoud^a ; ^c ; ^{bendaoudbechir@hotmail.com} ; ^{b.bendaoud@uoh.edu.sa} ; I. Hosni^c ; I. Mosbahi^a ; R. Hafsia^d ; C. Prehu^b ; S. Abbes^a ; ^e

关键词：G6PD ; Deficiency ; Mutations ; Variants ; Favisme ; Tunisians subjects

刊名：Pathologie Biologie

出版年：2013

9.Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the ¡°old?and update of the new mutations

作者：Angelo Minucci^a ; ^{angelo.minucci@virgilio.it} ; ^{angelo.minucci@rm.unicatt.it} ; Kamran Moradkhani^b ; Ming Jing Hwang^c ; Cecilia Zuppi^a ; Bruno Giardina^a ; Ettore Capoluongo^a ; ¹ ; ^{ecapoluongo@rm.unicatt.it}

关键词：G6PD mutations ; LOVD ; Favism ; RBC enzyme deficiency

刊名：Blood Cells, Molecules, and Diseases

出版年：2012

10.Gold nanostructures for the multiplex detection of glucose-6-phosphate dehydrogenase gene mutations

作者：Nianjia Seow^a ; Poh San Lai^b ; ^{paelaips@nus.edu.sg" class="auth_mail} ; ^{poh_san_lai@nuhs.edu.sg" class="auth_mail} ; Lin-Yue Lanry Yung^a ; ^{cheyly@nus.edu.sg" class="auth_mail}

关键词：Gold nanoparticles ; Glucose-6-phosphate dehydrogenase (G6PD) deficiency ; Mutation screening ; Multiplex detection ; Gel electrophoresis

刊名：Analytical Biochemistry

出版年：15 April, 2014

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