A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "rehovot") in a Jewish Ethiopian family with variable phenotypes

Blood Cells, Molecules, and Diseases

Volumn 26, Issue 6, 2000, Pages 567-571

  Iancovici Kidon, Mona ^a   Sthoeger, Daliah ^a   Abrahamov, Ayala ^b   Volach, Baruch ^c   Beutler, Ernest ^d   Gelbart, Terri ^d   Barak, Yigal ^a  

^a KAPLAN MEDICAL CENTER   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c MEIR MEDICAL CENTER   (Israel)

^d SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; BACTERICIDAL ACTIVITY; BINDING SITE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE MUTATION; HEMOLYTIC ANEMIA; HUMAN; LEUKOCYTE; MALE; NEUTROPENIA; OXIDATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; SCHOOL CHILD;

EID: 0034470748     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0334     Document Type: Article

References (25)

1. Three new exon 10 glucose-6-phosphate dehydrogenase mutations
2. G6PD deficiency
3. DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants
4. Isolation of leucocytes from human blood. Further observations. Methylcellulose, dextran, and Ficoll as erythrocyte-aggregating agents
5. A one-stage procedure for isolation of granulocytes and lymphocytes from human blood. General sedimentation properties of white blood cells in a 1g gravity field
6. Human granulocyte-macrophage colony-stimulating factor is a neutrophil activator
7. Quantitation of maximal bactericidal capability in human neutrophils
8. Standardization of procedures for the study of glucose-6-phosphate dehydrogenase
9. Glucose-6-phosphate dehydrogenase (G6PD) deficiency
10. +of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants
11. Congenital neutropenia: Neutrophil proliferation with abnormal maturation
12. Granulopoiesis in severe congenital neutropenia
13. Abnormal responses of myeloid progenitor cells to recombinant human colony-stimulating factors in congenital neutropenia
14. Severe congenital neutropenia: Abnormal growth and differentiation of myeloid progenitors to granulocyte colony-stimulating factor (G-CSF) but normal response to G-CSF plus stem cell factor
15. Granulocyte colony-stimulating factor (G-CSF) production and G-CSF receptor structure in patients with congenital neutropenia
16. In vitro functions of neutrophils induced by treatment with rhG-CSF in severe congenital neutropenia
17. Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase
18. Effect of glucose-6-phosphate dehydrogenase deficiency on neutrophil function
19. Neutrophil function in glucose-6-phosphate dehydrogenase deficient neonates
20. Severe congenital neutropenia: Clinical effects and neutrophil function during treatment with granulocyte colony-stimulating factor
21. Altered function and surface marker expression of neutrophils induced by rhG-CSF treatment in severe congenital neutropenia
22. G6PD: Population genetics and clinical manifestations
23. Hematologically important mutations: Glucose-6-phosphate dehydrogenase
24. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia
25. Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean