Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.
about
Identification of the structural gene for glucose-6-phosphate dehydrogenase in yeast. Inactivation leads to a nutritional requirement for organic sulfurGlucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the WorldG6PD deficiency in Latin America: systematic review on prevalence and variantsMolecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals.Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approachGlucose-6-phosphate dehydrogenase deficiency in Tunisia: molecular data and phenotype-genotype association.Molecular diversity of glucose-6-phosphate dehydrogenase: rat enzyme structure identifies NH2-terminal segment, shows initiation from sites nonequivalent in different organisms, and establishes otherwise extensive sequence conservation.Hot spot mutations in adenosine deaminase deficiency.Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: high frequency of a shortened red pigment gene among Afro-AmericansIdentification 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.Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants.Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissuesOxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolaseFavism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-).Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East.The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.In silico model-driven assessment of the effects of single nucleotide polymorphisms (SNPs) on human red blood cell metabolism.Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.Glucose-6-phosphate dehydrogenase deficiency among malaria patients of Honduras: a descriptive study of archival blood samples.PharmGKB summary: very important pharmacogene information for G6PD.Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemiaGlucose-6-phosphate dehydrogenase--from oxidative stress to cellular functions and degenerative diseases.Glucose-6-phosphate dehydrogenase deficiency prevalence and genetic variants in malaria endemic areas of Colombia.Is GERD a Factor in Osteonecrosis of the Jaw? Evidence of Pathology Linked to G6PD Deficiency and Sulfomucins.PCR-based allelic discrimination for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ugandan umbilical cord blood.Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-.Glucose-6-phosphate dehydrogenase--beyond the realm of red cell biology.A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India.Molecular dynamics simulations of protein-tyrosine phosphatase 1B. I. ligand-induced changes in the protein motions.G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A.Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.Two point mutations are responsible for G6PD polymorphism in Sardinia.Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Eastern Province of Saudi Arabia.Glucose-6-phosphate dehydrogenase deficiency in India.Glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome: a gene interaction underlies severe jaundice without severe hemolysis.
P2860
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P2860
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.
description
1988 nî lūn-bûn
@nan
1988 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
@zh-cn
1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
@zh-sg
1988年學術文章
@yue
name
Diverse point mutations in the ...... ld or severe hemolytic anemia.
@ast
Diverse point mutations in the ...... ld or severe hemolytic anemia.
@en
type
label
Diverse point mutations in the ...... ld or severe hemolytic anemia.
@ast
Diverse point mutations in the ...... ld or severe hemolytic anemia.
@en
prefLabel
Diverse point mutations in the ...... ld or severe hemolytic anemia.
@ast
Diverse point mutations in the ...... ld or severe hemolytic anemia.
@en
P2093
P2860
P356
P1476
Diverse point mutations in the ...... ld or severe hemolytic anemia.
@en
P2093
Battistuzzi G
Foulkes NS
Giordano R
Vulliamy TJ
P2860
P304
P356
10.1073/PNAS.85.14.5171
P407
P577
1988-07-01T00:00:00Z