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Mr lee nordhorn

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Mr Lee Nordhorn

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Please review our privacy policy. W Xu and E Beutler. Learn More. Copyright notice. Cloning and characterization of the gene and analysis of the enzyme. Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. Try out PMC Labs and tell us what you think.

Inherited glucosephosphate isomerase deficiency. Chromosome asments in man of the genes for two hexosephosphate isomerases.

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

Pediatr Res. Purification and biochemical properties of the defective enzyme. DNA was isolated from four unrelated glucose phosphate isomerase-deficient patients.

These references are in PubMed. Eur J Biochem.

Associated Data Supplementary Materials. Nihon Ketsueki Gakkai Zasshi. Mouse glucosephosphate isomerase and neuroleukin have identical 3' sequences. The isolation, characterization and nucleotide sequence of the phosphoglucoisomerase gene of Saccharomyces cerevisiae.

Pub - publikationen an der universität bielefeld

J Clin Invest. Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants. A review of known variants and some aspects of the pathomechanism of the deficiency. Full text is available as a scanned copy of the original print version.

Characterization of two new variants of glucose-phosphate-isomerase deficiency with hereditary nonspherocytic hemolytic anemia. Glucosephosphate isomerase from Trypanosoma brucei. Molecular cloning and expression of neuroleukin, a neurotrophic factor for spinal and sensory neurons. Hum Hered. Clinical and genetic studies.

Links to PubMed are also available for Selected References. Hum Mol Genet. This may not be the complete list of references from this article.

Get a printable copy PDF file of the complete article Kor click on a image below to browse by. Support Center Support Center. Glucosephosphate isomerase GPI deficiency hereditary nonspherocytic hemolytic anemia. Six mutations were found to involve highly conserved amino acids of glucose phosphate isomerase, suggesting that these residues are crucial for the maintenance of biological activity.

Glucosephosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the mouse: an animal model for the human disease. National Center for Biotechnology InformationU. Journal List J Clin Invest v.

Am J Hematol. Report of the first case found in Japanese.

Author information Copyright and information Disclaimer. J Lab Clin Med. Ann Intern Med. Combined erythrocyte phosphohexose isomerase and glucosephosphate dehydrogenase deficiency. Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant type Nordhorn. This article has been cited by other articles in PMC.

Abstract DNA was isolated from four unrelated glucose phosphate isomerase-deficient patients.

External link. N Engl J Med. Recent progress in the molecular genetic analysis of erythroenzymopathy. Characterization of the 5' end of the gene for human glucose phosphate isomerase GPI. DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency.