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

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Blood Cells, Molecules & Diseases

• Publication date

  2012-03-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.bcmd.2012.01.001PMID 22293322
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Practical approach for characterization of glucose 6‐phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutants

  2012cited by this paper
• Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis

  2011cited by this paper
• Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman.

  2011cited by this paper
• 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

  2011cited by this paper
• A New Glucose-6-phosphate Dehydrogenase Deficiency Variant, G6PD Mizushima, Showing Increases in Serum Ferritin and Cytosol Leucine Aminopeptidase Levels

  2011cited by this paper
• A novel G473A mutation in the glucose‐6‐phosphate dehydrogenase gene

  2010cited by this paper
• G6PD Murcia, G6PD Ube and G6PD Orissa: report of three G6PD mutations unusual for Italian population.

  2010cited by this paper
• Two new variants of G6PD deficiencies in Singapore.

  2010cited by this paper
• A large, systematic molecular-genetic study of G6PD in Indian populations identifies a new non-synonymous variant and supports recent positive selection.

  2010cited by this paper
• A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A- (68Val>Met, 126Asn>Asp).

  2009cited by this paper
• A prolonged neonatal jaundice associated with a rare G6PD mutation

  2009cited by this paper
• Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency.

  2008cited by this paper
• Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia.

  2008cited by this paper
• A novel G6PD mutation leading to chronic hemolytic anemia

  2008cited by this paper
• A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India

  2008cited by this paper
• Glucose -6- Phosphate Dehydrogenase (G6PD) variants in East Sepik Province of Papua New Guinea: G6PD Jammu, G6PD Vanua Lava, and a novel variant (G6PD Dagua)

  2008cited by this paper
• Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.

  2007cited by this paper
• Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam.

  2007cited by this paper
• Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles

  2007cited by this paper
• Three-Dimensional Modeling of Glucose-6-phosphate Dehydrogenase-Deficient Variants from German Ancestry

  2007cited by this paper
• Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.

  2007cited by this paper
• Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations.

  2006cited by this paper
• Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population

  2006cited by this paper
• Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia

  2006cited by this paper
• Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).

  2005cited by this paper
• Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

  2005cited by this paper
• Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.

  2005cited by this paper
• Two distinct Indian G6PD variants G6PD Jamnagar and G6PD Rohini caused by the same 949 G-->A mutation.

  2005cited by this paper
• Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase.

  2004cited by this paper
• G6PD-Puerto Limón: A new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia

  2004cited by this paper
• A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia

  2004cited by this paper
• A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia--characterization of enzyme using yeast expression system and molecular modeling.

  2004cited by this paper
• Molecular characterization of G6PD deficiency in Cyprus.

  2004cited by this paper
• Glucose-6-phosphate dehydrogenase (G6PD) deficiency-type Zurich: a splice site mutation as an uncommon mechanism producing enzyme deficiency.

  2004cited by this paper
• A unique electrophoretic slow-moving glucose 6-phosphate dehydrogenase variant (G6PD Asahikawa) with a markedly acidic pH optimum

  2004cited by this paper
• Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia

  2004cited by this paper
• Novel point mutation in exon 12 of the glucose‐6‐ Phosphate Dehydrogenase Gene: G6PD Flores

  2004cited by this paper
• G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia

  2004cited by this paper
• Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.

  2004cited by this paper
• A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia

  2004cited by this paper
• G6PD Viangchan: a new glucose 6-phosphate dehydrogenase variant from Laos

  2004cited by this paper
• Molecular characterization of G6PD Insuli--a novel 989 CGC --> CAC (330 Arg --> His) mutation in the Indian population.

  2003cited by this paper
• Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.

  2002cited by this paper
• A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself.

  2002cited by this paper
• Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.

  2002cited by this paper
• Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome.

  2002cited by this paper
• Hematologically important mutations: glucose-6-phosphate dehydrogenase.

  2002cited by this paper
• [Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Han and Li nationalities in Hainan, China and identification of a new mutation in human G6PD gene].

  2001cited by this paper
• A New Glucose-6-Phosphate Dehydrogenase Variant G6PD Sugao (826C→T) Exhibiting Chronic Hemolytic Anemia With Episodes of Hemolytic Crisis Immediately After Birth

  2001cited by this paper
• Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia

  2001cited by this paper
• A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man.

  2001cited by this paper
• Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia

  2001cited by this paper
• Molecular Heterogeneity of the Glucose-6-Phosphate Dehydrogenase Deficiency in the Hellenic Population

  2000cited by this paper
• Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia.

  2000cited by this paper
• A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes.

  2000cited by this paper
• Three major G6PD‐deficient polymorphic variants identified among the Mauritian population

  1999cited by this paper
• Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.

  1999cited by this paper
• Several mutations including two novel mutations of the glucose‐6‐phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

  1999cited by this paper
• G6PD Mount Sinai: A new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)

  1998cited by this paper
• A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.

  1998cited by this paper
• G6PD Variants in Three South American Ethnic Groups: Population Distribution and Description of Two New Mutations

  1998cited by this paper
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  1998cited by this paper
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  1997cited by this paper
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  1997cited by this paper
• Genetic heterogeneity of glucose‐6‐phosphate dehydrogenase deficiency in south‐east Sicily

  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
• Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.

  1997cited by this paper
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  1997cited by this paper
• Glucose-6-phosphate dehydrogenase deficiency mutations in Papua New Guinea.

  1996cited by this paper
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  1996cited by this paper
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  1996cited by this paper
• Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean.

  1996cited by this paper
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  1996cited by this paper
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  1995cited by this paper
• Molecular analysis of glucose-6-phosphate dehydrogenase variants in the Solomon Islands.

  1995cited by this paper
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  1995cited by this paper
• Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia.

  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
• Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).

  1995cited by this paper
• Three new exon 10 glucose-6-phosphate dehydrogenase mutations.

  1995cited by this paper
• New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.

  1995cited by this paper
• A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

  1994cited by this paper
• Biochemical and molecular characterization of a new sporadic glucose‐6‐phosphate dehydrogenase variant described in Italy: G6PD Modena

  1994cited by this paper
• Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis.

  1994cited by this paper
• Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.

  1993cited by this paper
• G6PD “campinas:” A deficient enzyme with a mutation at the far 3′ end of the gene

  1993cited by this paper
• Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene.

  1993cited by this paper
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  1993cited by this paper
• Molecular characterization of glucose-6-phosphate dehydrogenase variants from Brazil.

  1993cited by this paper
• G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion.

  1993cited by this paper
• G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.

  1993cited by this paper
• 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.

  1992cited by this paper
• New glucose-6-phosphate dehydrogenase mutations from various ethnic groups

  1992cited by this paper
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  1992cited by this paper
• Molecular heterogeneity underlying the G6PD Mediterranean phenotype

  1992cited by this paper
• Molecular basis of chronic non‐spherocytic haemolytic anaemia: a new G6PD variant (393 Arg→His) with abnormal KmG6P and marked in vivo instability

  1992cited by this paper
• Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan.

  1992cited by this paper
• New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.

  1992cited by this paper

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