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Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis

Human Genetics

Feb 16, 1978

A KahnC Griscelli

PMID: 631848

Abstract

Two new deficient glucose-phosphate-isomerase (GPI) variants have been described in patients suffering from severe chronic hemolytic anemias. The patients' parents were consanguineous, such that the patients were true homozygotes for the mutated GPI genes. In both cases the main cause o...read more

Mentioned in this Paper

Metabolic Process, Cellular
Biochemical Pathway
Chronic Disease
Phosphate Measurement
Thyroid Hormone Plasma Membrane Transport Defect
Glycosylphosphatidylinositol Deficiency
Enzyme Deficiency
Enzyme Activity
ZNF746 gene
Genus Paris
Paper Details
References
  • References13
  • Citations9
12

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GPI Anchoring

Glycosylphosphatidylinositol (GPI) is a glycolipid anchor for several cell-surface proteins that play a role in various biological processes, including signal transduction, prion disease pathogenesis, and immune response. Here is the latest research.

Hemolytic-uremic syndrome

Hemolytic-uremic anemia (HUS) is characterized by non-immune hemolytic anemia and thrombocytopenia as well as organ dysfunction, typically acute renal failure. HUS is often caused by Shiga toxin-producing enterohaemorrhagic Escherichia coli, while atypical HUS is associated with complement dysregulation. Find the latest research on HUS here.

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Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis

Human Genetics

Feb 16, 1978

A KahnC Griscelli

PMID: 631848

DOI:

Abstract

Two new deficient glucose-phosphate-isomerase (GPI) variants have been described in patients suffering from severe chronic hemolytic anemias. The patients' parents were consanguineous, such that the patients were true homozygotes for the mutated GPI genes. In both cases the main cause o...read more

Mentioned in this Paper

Metabolic Process, Cellular
Biochemical Pathway
Chronic Disease
Phosphate Measurement
Thyroid Hormone Plasma Membrane Transport Defect
Glycosylphosphatidylinositol Deficiency
Enzyme Deficiency
Enzyme Activity
ZNF746 gene
Genus Paris

Similar Papers Found In These Feeds

GPI Anchoring

Glycosylphosphatidylinositol (GPI) is a glycolipid anchor for several cell-surface proteins that play a role in various biological processes, including signal transduction, prion disease pathogenesis, and immune response. Here is the latest research.

Hemolytic-uremic syndrome

Hemolytic-uremic anemia (HUS) is characterized by non-immune hemolytic anemia and thrombocytopenia as well as organ dysfunction, typically acute renal failure. HUS is often caused by Shiga toxin-producing enterohaemorrhagic Escherichia coli, while atypical HUS is associated with complement dysregulation. Find the latest research on HUS here.

Related Papers

Paper Details
References
  • References13
  • Citations9
12
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