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Titolo:
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes
Autore:
Iancovici-Kidon, M; Sthoeger, D; Abrahamov, A; Volach, B; Beutler, E; Gelbart, T; Barak, Y;
Indirizzi:
Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel Kaplan Med Ctr Rehovot Israel IL-76100 Pediat, IL-76100 Rehovot, Israel Shaare Tzedek Med Ctr, Jerusalem, Israel Shaare Tzedek Med Ctr JerusalemIsrael zedek Med Ctr, Jerusalem, Israel Meir Hosp, Kfar Saba, Israel Meir Hosp Kfar Saba IsraelMeir Hosp, Kfar Saba, Israel Scripps Clin & Res Inst, La Jolla, CA 92037 USA Scripps Clin & Res Inst La Jolla CA USA 92037 nst, La Jolla, CA 92037 USA
Titolo Testata:
BLOOD CELLS MOLECULES AND DISEASES
fascicolo: 6, volume: 26, anno: 2000,
pagine: 567 - 571
SICI:
1079-9796(200012)26:6<567:ANE9GD>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
SEVERE CONGENITAL NEUTROPENIA; COLONY-STIMULATING FACTOR; FACTOR G-CSF; RHG-CSF; DEFICIENCY; ANEMIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Barak, Y Kaplan Med Ctr, Dept Pediat, IL-76100 Rehovot, Israel Kaplan Med Ctr Rehovot Israel IL-76100 IL-76100 Rehovot, Israel
Citazione:
M. Iancovici-Kidon et al., "A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes", BL CELL M D, 26(6), 2000, pp. 567-571

Abstract

Hereditary nonspherocytic hemolytic anemia (HNSHA) is a rare manifestationof glucose-6-phosphate dehydrogenase (G6PD) gene mutations, caused mainly by mutations located in exon 10 of the G6PD gene and less commonly by mutations in other parts of the gene. A new, exon 9, single-base mutation representing a T --> C transition at cDNA nucleotide 964 was found in three brothers and their carrier mother of Jewish Ethiopian descent. Biochemical characterization of the resultant protein was not performed. Though clinical manifestations included HNSHA in all cases, the severity of hemolysis and the transfusion requirement differed markedly. Severe congenital neutropenia (Kostmann's syndrome)-a disorder never reported before in conjunction with G6PD deficiency-was observed in one case. Levels of white blood cell G6PD activity of the three patients were 0-5% of normal controls. Neutrophil oxidative and bactericidal activities were inherently impaired in the patient with Kostmann's syndrome, but were well preserved in his two siblings. (C) 2000 Academic Press.

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Documento generato il 01/04/20 alle ore 17:45:09