Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome

被引：25

作者：

Barton, JC ^{[1
]}

Beutler, E

Gelbart, T

机构：

[1] So Iron Disorders Ctr, Birmingham, AL USA

[2] Scripps Res Inst, La Jolla, CA USA

来源：

BLOOD | 1998年 / 92卷 / 11期

关键词：

D O I：

10.1182/blood.V92.11.4480.423a57b_4480_4481

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：4480 / 4480

页数：1

共 10 条

[1] Hyperferritinaemia in the absence of iron overload. [J].

Arnold, JD ;

Mumford, AD ;

Lindsay, JO ;

Hegde, U ;

Hagan, M ;

Hawkins, JR .

GUT, 1997, 41 (03) :408-410

[2] Genetic and clinical description of hemochromatosis probands and heterozygotes: Evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis [J].

Barton, JC ;

Shih, WWH ;

SawadaHirai, R ;

Acton, RT ;

Harmon, L ;

Rivers, C ;

Rothenberg, BE .

BLOOD CELLS MOLECULES AND DISEASES, 1997, 23 (08) :135-145

[3]

BARTON JC, 1991, HOSP PRACT, V26, P46

[4] MUTATION IN THE IRON-RESPONSIVE ELEMENT OF THE L-FERRITIN MESSENGER-RNA IN A FAMILY WITH DOMINANT HYPERFERRITINEMIA AND CATARACT [J].

BEAUMONT, C ;

LENEUVE, P ;

DEVAUX, I ;

SCOAZEC, JY ;

BERTHIER, M ;

LOISEAU, MN ;

GRANDCHAMP, B ;

BONNEAU, D .

NATURE GENETICS, 1995, 11 (04) :444-446

[5]

Beutler Ernest, 1996, Blood Cells Molecules and Diseases, V22, P187, DOI 10.1006/bcmd.1996.0027

[6] USEFULNESS AND LIMITATIONS OF LABORATORY AND HEPATIC IMAGING STUDIES IN IRON-STORAGE DISEASE [J].

BONKOVSKY, HL ;

SLAKER, DP ;

BILLS, EB ;

WOLF, DC .

GASTROENTEROLOGY, 1990, 99 (04) :1079-1091

[7] A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [J].

Feder, JN ;

Gnirke, A ;

Thomas, W ;

Tsuchihashi, Z ;

Ruddy, DA ;

Basava, A ;

Dormishian, F ;

Domingo, R ;

Ellis, MC ;

Fullan, A ;

Hinton, LM ;

Jones, NL ;

Kimmel, BE ;

Kronmal, GS ;

Lauer, P ;

Lee, VK ;

Loeb, DB ;

Mapa, FA ;

McClelland, E ;

Meyer, NC ;

Mintier, GA ;

Moeller, N ;

Moore, T ;

Morikang, E ;

Prass, CE ;

Quintana, L ;

Starnes, SM ;

Schatzman, RC ;

Brunke, KJ ;

Drayna, DT ;

Risch, NJ ;

Bacon, BR ;

Wolff, RK .

NATURE GENETICS, 1996, 13 (04) :399-408

[8] A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome [J].

Martin, ME ;

Fargion, S ;

Brissot, P ;

Pellat, B ;

Beaumont, C .

BLOOD, 1998, 91 (01) :319-323

[9] A new syndrome of liver iron overload with normal transferrin saturation [J].

Moirand, R ;

Mortaji, AM ;

Loreal, O ;

Paillard, F ;

Brissot, P ;

Deugnier, Y .

LANCET, 1997, 349 (9045) :95-97

[10] Hereditary hemochromatosis [J].

Witte, DL ;

Crosby, WH ;

Edwards, CQ ;

Fairbanks, VF ;

Mitros, FA .

CLINICA CHIMICA ACTA, 1996, 245 (02) :139-200

← 1 →