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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

Amina KahnClaude Griscelli

PMID: 631848

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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

Aminoacylase 1 Deficiency
Inorganic phosphate
Phosphate ion
Glycosylphosphatidylinositol Deficiency
Thyroid Hormone Plasma Membrane Transport Defect
Enzyme Deficiency
Mutant
Anemia, Hemolytic, Congenital Nonspherocytic
Microangiopathic Hemolytic Anemia
Mutation Abnormality
Paper Details
References
  • References13
  • Citations7
12

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

Human Genetics

Feb 16, 1978

Amina KahnClaude 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

Aminoacylase 1 Deficiency
Inorganic phosphate
Phosphate ion
Glycosylphosphatidylinositol Deficiency
Thyroid Hormone Plasma Membrane Transport Defect

Related Papers

Paper Details
References
  • References13
  • Citations7
12

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