首页 | 本学科首页   官方微博 | 高级检索  
     


Hemolysis and Mediterranean G6PD mutation (c.563 C>T) and c.1311 C>T polymorphism among Palestinians at Gaza Strip
Authors:Sirdah Mahmoud  Reading N Scott  Perkins Sherrie L  Shubair Mohammad  Aboud Lina  Prchal Josef T
Affiliation:Associated Regional and University Pathologists, Inc., ARUP Laboratories and University of Utah, Salt Lake City, UT 84132-2408, USA. sirdah@alazhar.edu.ps,
Abstract:
Keywords:
本文献已被 PubMed 等数据库收录!
相似文献(共20条):
[1]、Samilchuk E,Al-Suliman I,Usanga E,Al Awadi S.Glucose-6-phosphate dehydrogenase (G6PD) mutations and UDP-glucuronosyltransferase promoter polymorphism among G6PD deficient Kuwaitis[J].Blood cells, molecules & diseases,2003,31(2):201-205.
[2]、Sukumar S,Mukherjee MB,Colah RB,Mohanty D.Two distinct Indian G6PD variants G6PD Jamnagar and G6PD Rohini caused by the same 949 G-->A mutation[J].Blood cells, molecules & diseases,2005,35(2):193-195.
[3]、Molecular and functional characterization of LRP1 promoter polymorphism c.1-25 C>G (rs138854007)[J].Atherosclerosis
[4]、Ikbel Benmansour,Kamran Moradkhani,Imen Moumni,Henri Wajcman,Raouf Hafsia,Abderraouf Ghanem,Salem Abbès,Claude Préhu.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[J].Blood cells, molecules & diseases,2013,50(2):110-114.
[5]、Sarmad Toma,María Tenorio,Matthew Oakley,Barnaby E. Clark.Two Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin[J].Hemoglobin,2014,38(1):67-69.
[6]、N S Karadsheh,A S Awidi,M S Tarawneh.Two new glucose-6 phosphate dehydrogenase (G6PD) variants associated with hemolytic anemia: G6PD Amman-1 and G6PD Amman-2[J].American journal of hematology,1986,22(2):185-192.
[7]、Subtle adjustments of the glucose-6-phosphate dehydrogenase (G6PD) mutation database and reference sequence[J].Blood cells, molecules & diseases
[8]、Y Chiba,S Takizawa,K Kishi,A Hattori,A Shibata,N Matsumoto,J Fujii,S Miwa.A new glucose 6-phosphate dehydrogenase (G6PD) variant (G6PD Niigata) with chronic hemolysis and liver hemochromatosis[J].Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine,1989,78(1):41-47.
[9]、Vaca G.G6PD (AC)n and (CTT)n microsatellites in Mexican Mestizos with common G6PD African variants[J].Blood cells, molecules & diseases,2007,38(3):238-241.
[10]、Rummel T,Suormala T,Häberle J,Koch HG,Berning C,Perrett D,Fowler B.Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation[J].Journal of inherited metabolic disease,2007,30(3):401.
[11]、任倩倩,李慧娟,宋士娜,李常新.HTRA1基因c.854C>T(p.P285L)杂合突变所致脑小血管病:1例报道[J].国际脑血管病杂志,2022,30(3):236-240.
[12]、K. A. Pettigrew,A. J. McKnight,R. J. Martin,C. C. Patterson,J. Kilner,D. Sadlier,A. P. Maxwell,D. A. Savage,The Warren /UK GoKinD Study Group.No support for association of protein kinase C,beta 1 (PRKCB1) gene promoter polymorphisms c.–1504C>T and c.–546C>G with diabetic nephropathy in Type 1 diabetes[J].Diabetic medicine,2008,25(9):1127-1129.
[13]、Finsterer J,Stöllberger C,Holinski-Feder E.Recovery of systolic dysfunction in duchenne muscular dystrophy due to the point mutation c.4213C>T[J].Cardiology,2010,117(4):265-267.
[14]、M. Gahr,,D. Bornhalm, W. Schröter.Haemolytic Anaemia due to Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: Demonstration of Two New Biochemical Variants, G6PD Hamm and G6PD Tarsus[J].British journal of haematology,1976,33(3):363-370.
[15]、A Morelli,U Benatti,L Guida,A De Flora.Mediterranean glucose 6-phosphate dehydrogenase (G6PD) deficiency--near normal decay of the mutant enzyme protein in circulating erythrocytes[J].Scandinavian journal of haematology,1984,33(2):144-154.
[16]、S. W. Eber,M. Gahr,W. Schröter.Glucose-6-phosphate dehydrogenase (G6PD) iserlohn and G6PD regensburg: Two new severe enzyme defects in german families[J].Annals of hematology,1985,51(2):109-115.
[17]、Marcilene Rezende Silva,Shimene Mascarenhas Sendin,Marcos Borato Viana.Hb Etobicoke mutation in a hybrid HBA212 allele [HBA212 84 (F5) Ser>Arg; HBA212:c.255C>G][J].Annals of hematology,2012,91(12):1971-1974.
[18]、Moskau S,Farmand S,Semmler A,Wüllner U,Pohl C,Klockgether T,Linnebank M.The methionine synthase polymorphism c.2756A>G (D919G) influences diastolic blood pressure[J].Journal of human hypertension,2007,21(5):418-420.
[19]、Sofi F,Fatini C,Sticchi E,Lenti M,Gori AM,Giusti B,Fedi S,Casini A,Abbate R,Gensini GF.Fish intake and LPA 93C>T polymorphism: gene-environment interaction in modulating lipoprotein (a) concentrations[J].Atherosclerosis,2007,195(2):e147-e154.
[20]、Nikica Ljubas Tomasic,Lucie Piterkova,Chad Huff,Ernest Bilic,Donghoon Yoon,Galina Y. Miasnikova,Adelina I. Sergueeva,Xiaomei Niu,Sergei Nekhai,Victor Gordeuk,Josef T. Prchal.The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W)[J].Haematologica,2013,98(4):560-567.
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号