Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis

被引：22

作者：

Hofmann, WK ^{[1
]}

Tong, XJ ^{[1
]}

Ajioka, RS ^{[1
]}

Kushner, JP ^{[1
]}

Koeffler, HP ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Sch Med, Cedars Sinai Res Inst, Div Hematol Oncol, Los Angeles, CA 90048 USA

来源：

BLOOD | 2002年 / 100卷 / 03期

关键词：

D O I：

10.1182/blood-2002-04-1077

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1099 / 1100

页数：2

共 8 条

[1] The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
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[J]. NATURE GENETICS, 2000, 25 (01) : 14 - 15
[2] De Gobbi M, 2001, BRIT J HAEMATOL, V114, P243
[3] A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
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[4] Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (05) : 2214 - 2219
[5] Girelli D, 2001, BLOOD, V98, p4A
[6] Mutation analysis of the DNA-damage checkpoint gene CHK2 in myelodysplastic syndromes and acute myeloid leukemias
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[J]. LEUKEMIA RESEARCH, 2001, 25 (04) : 333 - 338
[7] Molecular cloning of transferrin receptor 2 - A new member of the transferrin receptor-like family
Kawabata, H
Yang, S
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Vuong, PT
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Gombart, AF
Koeffler, HP
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (30) : 20826 - 20832
[8] New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
Roetto, A
Totaro, A
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Piga, A
Longo, F
Garozzo, G
Calì, A
De Gobbi, M
Gasparini, P
Camaschella, C
[J]. BLOOD, 2001, 97 (09) : 2555 - 2560

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