(Q40957048)

25 September 2017

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title

Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes (English)

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congenital hemolytic anemia

25 September 2017

main subject

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Miwa S

1

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25 September 2017

Fujii H

series ordinal

2

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25 September 2017

publication date

1 February 1996

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American Journal of Hematology

25 September 2017

published in

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25 September 2017

volume

51

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25 September 2017

issue

2

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25 September 2017

page(s)

122-132

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Recent progress in the molecular genetic analysis of erythroenzymopathy

25 September 2017

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cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia

21 January 2018

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Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells

21 January 2018

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Concise review: pyruvate kinase deficiency: historical perspective and recent progress of molecular genetics

21 January 2018

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Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia

21 January 2018

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Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia

21 January 2018

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Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK.

21 January 2018

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A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese

21 January 2018

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

21 January 2018

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Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).

21 January 2018

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Some Mexican glucose-6-phosphate dehydrogenase variants revisited

21 January 2018

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Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA.

21 January 2018

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Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants

21 January 2018

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

21 January 2018

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Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica

21 January 2018

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

21 January 2018

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Two commonly occurring nucleotide base substitutions in Chinese G6PD variants

21 January 2018

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Hexokinase mutations that produce nonspherocytic hemolytic anemia

21 January 2018

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The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia

21 January 2018

1 reference

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DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency

21 January 2018

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Mutations in muscle phosphofructokinase gene

21 January 2018

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Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation

21 January 2018

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Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme

21 January 2018

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Human triosephosphate isomerase: substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester

21 January 2018

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Premature translation termination mediates triosephosphate isomerase mRNA degradation

21 January 2018

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Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

21 January 2018

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Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia

21 January 2018

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Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia

21 January 2018

1 reference

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Chromatographic analysis of human erythrocyte pyrimidine 5'-nucleotidase from five patients with pyrimidine 5'-nucleotidase deficiency

21 January 2018

1 reference

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Deficiency in red blood cells

21 January 2018

1 reference

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Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.

21 January 2018

1 reference

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Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase

21 January 2018

1 reference

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Molecular heterogeneity underlying the G6PD Mediterranean phenotype

21 January 2018

1 reference

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Glucose-6-phosphate dehydrogenase deficiency

21 January 2018

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Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan

21 January 2018

1 reference

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Definition of the Mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD ‘Lejeune’

21 January 2018

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Glucose-6-phosphate dehydrogenase variants in Hawaii

21 January 2018

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Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization

21 January 2018

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

21 January 2018

1 reference

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Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate

21 January 2018

1 reference

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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

21 January 2018

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G6PD "campinas:" a deficient enzyme with a mutation at the far 3' end of the gene

21 January 2018

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A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing

21 January 2018

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Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis

21 January 2018

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A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)

21 January 2018

1 reference

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10.1002/(SICI)1096-8652(199602)51:2<122::AID-AJH5>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

25 September 2017

1 reference