Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
Autore:
Levy, JE; Montross, LK; Cohen, DE; Fleming, MD; Andrews, NC;
Indirizzi:
Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 Hughes Med Inst, Boston, MA 02115 USA Childrens Hosp, Div Hematol Oncol, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 iv Hematol Oncol, Boston, MA 02115 USA Brigham & Womens Hosp, Div Hematol, Boston, MA 02115 USA Brigham & Womens Hosp Boston MA USA 02115 v Hematol, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA Brigham & Womens Hosp Boston MA USA 02115 pt Pathol, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Med, Boston, MA USA Harvard Univ Boston MA USA rvard Univ, Sch Med, Dept Med, Boston, MA USA Harvard Univ, Sch Med, Dept Pediat, Boston, MA USA Harvard Univ Boston MAUSA rd Univ, Sch Med, Dept Pediat, Boston, MA USA Harvard Univ, Sch Med, Program Biol & Biomed Sci, Boston, MA USA Harvard Univ Boston MA USA ed, Program Biol & Biomed Sci, Boston, MA USA
Titolo Testata:
BLOOD
fascicolo: 1, volume: 94, anno: 1999,
pagine: 9 - 11
SICI:
0006-4971(19990701)94:1<9:TCMCHH>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
IRON OVERLOAD; GENE;
Tipo documento:
Editorial Material
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Andrews, NC Childrens Hosp, Howard Hughes Med Inst, Enders 720,300 Longwood Ave, Boston, MA 02115 USA Childrens Hosp Enders 720,300 Longwood Ave Boston MA USA 02115
Citazione:
J.E. Levy et al., "The C282Y mutation causing hereditary hemochromatosis does not produce a null allele", BLOOD, 94(1), 1999, pp. 9-11

Abstract

Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes a large portion of the coding sequence, generating a null allele. The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves thegene intact. This mutation is identical to the disease-causing mutation inpatients with hereditary hemochromatosis. Mice carrying each of the two mutations were bred and analyzed. Homozygosity for either mutation results inpostnatal iron loading. The effects of the null mutation are more severe than the effects of the C282Y mutation. Mice heterozygous for either mutation accumulate more iron than normal controls. Interestingly, although liver iron stores are greatly increased, splenic iron is decreased. We conclude that the C282Y mutation does not result in a null allele. (C) 1999 by The American Society of Hematology.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 04:59:52