The Molecular Biology of G6PD Variants and Other Red Cell Enzyme Defects

Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis

1965 • 362 citations

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

1988 • 249 citations

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.

1983 • 232 citations

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

1988 • 151 citations

Familial deficiency of glutathione reductase in human blood cells

1976 • 122 citations

The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes.

1978 • 122 citations

A SINGLE AMINO ACID SUBSTITUTION (ASPARAGINE TO ASPARTIC ACID) BETWEEN NORMAL (B+) AND THE COMMON NEGRO VARIANT (A+) OF HUMAN GLUCOSE-6-PHOSPHATE DEHYDROGENASE

1967 • 121 citations

VARIATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN DIFFERENT POPULATIONS

1964 • 119 citations

The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene

1989 • 102 citations

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

1989 • 91 citations

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

1990 • 87 citations

Two point mutations are responsible for G6PD polymorphism in Sardinia.

1989 • 85 citations

Molecular analysis of human acatalasemia

1990 • 81 citations

Cloning of human muscle phosphofructokinase cDNA

1987 • 73 citations

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.

1990 • 72 citations

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

1987 • 70 citations

"CHICAGO I" VARIANT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN CONGENITAL HEMOLYTIC DISEASE.

1964 • 67 citations

Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells.

1988 • 65 citations

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

1991 • 61 citations

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

1980 • 59 citations

Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type

1990 • 59 citations

Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A.

1990 • 53 citations

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

1990 • 53 citations

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

1991 • 51 citations

TPNH-methemoglobin reductase deficiency: a new red-cell enzyme defect.

1967 • 49 citations

G6PD Mahidol, a common deficient variant in South East Asia is caused by a (163)g;ycine - serine mutation

1989 • 46 citations

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

1990 • 46 citations

Purification and some properties of human erythrocyte hexokinase

1976 • 41 citations

Cloning and expression of a human muscle phosphofructokinase cDNA

1989 • 40 citations

Isolation and chromosomal localization of the human glutathione peroxidase gene

1990 • 33 citations

An isozyme of hexokinase specific for the human red blood cell (HKR) [see comments]

1990 • 28 citations

Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase.

1990 • 28 citations

A New Variant of Glucose-6-Phosphate Dehydrogenase Deficiency Hereditary Hemolytic Anemia, G6PD Cornell: Erythrocyte, Leukocyte, and Platelet Studies

1974 • 25 citations

Characterization of the 5′ end of the gene for human glucose phosphate isomerase (GPI)

1990 • 25 citations

Isolation and characterization of the human 2,3-bisphosphoglycerate mutase gene.

1988 • 24 citations

A Glucose-6-Phosphate Dehydrogenase Variant, Gd(-) Santamaria Found in Costa Rica

1984 • 21 citations

Construction of a cDNA clone containing the entire coding region of the human liver-type phosphofructokinase

1987 • 19 citations

Glucose-6-phosphate dehydrogenase variants: reexamination of G6PD Chicago and Cornell and a new variant (G6PD Pea Ridge) resembling G6PD Chicago

1980 • 17 citations

Red cell enzyme defects.

1990 • 12 citations

Purification and physical properties of hexokinase from human erythrocytes

1986 • 8 citations

Natural and artificial mutants of the human 2,3-bisphosphoglycerate as a tool for the evaluation of structure-function relationships.

1990 • 6 citations

Fructose-6-phosphate,2-kinase activity in human erythrocytes

1987 • 5 citations