Condition: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY


rs1050829 in G6PD gene and ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY PMID 2836867 1988 Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).

PMID 3446582 1987 A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+).

PMID 3393536 1988 Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

PMID 7949118 1994 G6PD deficiency.

PMID 15349799 2004 Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population.

PMID 23926329 2013 A randomized comparison of dihydroartemisinin-piperaquine and artesunate-amodiaquine combined with primaquine for radical treatment of vivax malaria in Sumatera, Indonesia.

PMID 11499668 2001 Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia.

PMID 11793482 2002 Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population.

PMID 17959407 2008 Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PD(Plymouth) and G6PD(Mahidol): Evidence for defective protein folding as the basis of disease.

PMID 8118045 1994 Expression and biochemical characterization of human glucose-6-phosphate dehydrogenase in Escherichia coli: a system to analyze normal and mutant enzymes.

PMID 21989994 2012 Glucose-6-phosphate dehydrogenase qingzhen: identification of a novel splice mutation (IVS5-1 G>A).

PMID 27880809 2016 Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals.

PMID 22165289 2011 Enzyme kinetics and molecular modeling studies of G6PD(Mahidol) associated with acute hemolytic anemia.

PMID 2503817 1989 G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.

PMID 2912069 1989 Two point mutations are responsible for G6PD polymorphism in Sardinia.

PMID 5305539 1969 Characterization of glucose-6-phosphate dehydrogenase variants. I. Occurrence of a G6PD Seattle-like variant in Sardinia and its interaction with the G6PD Mediterranean variant.

PMID 7806085 1995 Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia.

PMID 7947250 1994 Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena.

PMID 8807321 1996 Human enzyme polymorphism in the Canary Islands. VII. G6PD Seattle in Canarians and North African Berbers.

PMID 7947239 1994 Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia.

PMID 26226515 2015 Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border.

PMID 18046504 2008 Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar.

PMID 16528451 2006 Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand.

PMID 27053284 2016 Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PDViangchan and G6PDViangchan+Mahidol: Decreased stability and catalytic efficiency contribute to the clinical phenotype.

PMID 16155737 2005 G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population.

PMID 27213370 2016 Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan.

PMID 19589177 2009 Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population.

PMID 18329300 2008 Development and evaluation of a reverse dot blot assay for the simultaneous detection of six common Chinese G6PD mutations and one polymorphism.

PMID 23965028 2013 Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency.

PMID 1805484 1991 Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD 'LeJeune'.

PMID 25775246 2015 Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.

PMID 16777444 2006 Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects.

PMID 3338798 1988 G6PD Viangchan: a new glucose 6-phosphate dehydrogenase variant from Laos.

PMID 16136268 2005 Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population.

PMID 18270558 2008 Higher infection of dengue virus serotype 2 in human monocytes of patients with G6PD deficiency.

PMID 7789945 1995 Molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in three Taiwan aboriginal tribes.

PMID 1562739 1992 Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan.

PMID 11400791 1999 Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan.

PMID 11243133 1998 [Glucose-6-phosphate dehydrogenase mutations among Cantonese revealed by polymerase chain reaction using dried blood spots].

PMID 7959695 1994 A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia.

PMID 7858267 1995 New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.

PMID 9452072 1998 G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).

PMID 8193373 1994 Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis.

PMID 8733135 1996 Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.

PMID 8533762 1995 A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India.

PMID 1536798 1992 Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability.

PMID 1889820 1991 Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome.

PMID 12524354 2002 Nucleotide variability at G6pd and the signature of malarial selection in humans.

PMID 1945893 1991 A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.

PMID 8490627 1993 G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.

PMID 26479991 2015 Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent.

PMID 1611091 1992 New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.

PMID 30988594 2019 A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant.

PMID 1303180 1992 A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese.

PMID 1303182 1992 G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation.

PMID 20007901 2009 Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.

PMID 8447319 1993 Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.

PMID 7825590 1995 Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).

PMID 22293322 2012 "Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the ""old"" and update of the new mutations."

PMID 12497642 2003 Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays.

PMID 26823837 2015 Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province.

PMID 10221015 1999 Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos.

PMID 16088936 2005 Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus).

PMID 24586352 2014 A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan.

PMID 8611726 1996 Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean.

PMID 24460025 2014 Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening.

PMID 23479361 2013 Glucose-6-phosphate dehydrogenase deficient variants are associated with reduced susceptibility to malaria in the Brazilian Amazon.

PMID 19594365 2009 G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the risk of stroke.

PMID 22906047 2012 Neonatal hyperbilirubinemia in infants with G6PD c.563C > T Variant.

PMID 1978555 1990 Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East.

PMID 15315792 2005 Molecular basis of G6PD deficiency in India.

PMID 15502081 2004 In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.

PMID 21677401 2011 Molecular identification of G6PD Chatham (G1003A) in Khuzestan province of Iran.

PMID 2849540 1988 The production of normal and variant human glucose-6-phosphate dehydrogenase in cos cells.

PMID 16927025 2006 Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia.

PMID 20602793 2010 Prevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq.

PMID 25548459 2015 Molecular Characterization of G6PD Deficient Variants in Nineveh Province, Northwestern Iraq.

PMID 26060661 2013 Identification of Mutation of Glucose-6-Phosphate Dehy-drogenase (G6PD) in Iran: Meta- analysis Study.

PMID 9589612 1998 Molecular characterization of Chinese G6PD deficiency by using polymerase chain reaction/single strand conformation polymorphism.

PMID 30315739 2018 Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China.

PMID 2263506 1990 G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation.

PMID 21446359 2010 Two new variants of G6PD deficiencies in Singapore.

PMID 25440321 2015 Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.

PMID 22171972 2011 Prevalence and distribution of glucose-6-phosphate dehydrogenase (G6PD) variants in Thai and Burmese populations in malaria endemic areas of Thailand.

PMID 25541721 2014 Field trial evaluation of the performances of point-of-care tests for screening G6PD deficiency in Cambodia.

PMID 21874587 2012 G6PD genotype and its associated enzymatic activity in a Chinese population.

PMID 17587269 2007 Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China.

PMID 17726510 2007 Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam.

PMID 16143877 2005 Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split.

PMID 20203002 2010 Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis.

PMID 10643148 1999 Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton.

PMID 16607506 2006 Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population.

PMID 6714986 1984 Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan.

PMID 11024211 2000 1376G-->T mutation of G6PD gene in Han and Li nationalities in Hainan, China.

PMID 8537082 1996 Molecular variants of red cell glucose-6-phosphate dehydrogenase deficiency in Central Java, Indonesia.

PMID 22963789 2013 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.

PMID 16119988 2005 Molecular characterization of glucose-6-phosphate dehydrogenase gene defect in the Kuwaiti population.

PMID 22018328 2011 Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia.

PMID 29072585 2017 Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant.

PMID 22237549 2012 PharmGKB summary: very important pharmacogene information for G6PD.

PMID 28195434 2017 A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum.

PMID 2572288 1989 Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-.

PMID 22963798 2012 Cystic lymphangioma of the kidney: Diagnosis and management.

PMID 25141282 2014 G6PD deficiency in Latin America: systematic review on prevalence and variants.

PMID 12367584 2003 Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.

PMID 12215013 2002 Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia.

PMID 21302115 2011 Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi.

PMID 14505231 2003 Five different glucose-6-phophate [correction phosphate]dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia.

PMID 20621077 2010 G6PD Murcia, G6PD Ube and G6PD Orissa: report of three G6PD mutations unusual for Italian population.

rs137852340 in IKBKG;G6PD gene and ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY PMID 11601226 1999 [Detection of three common G6PD gene point mutations in Guangdong province by using ARMS].

PMID 29339739 2018 Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.

PMID 30315739 2018 Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China.

PMID 10502785 1999 Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese.

PMID 16329560 2004 Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.