To the editor: A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4?

被引：82

作者：

Roetto, A ^{[1
]}

Merryweather-Clarke, AT ^{[1
]}

Daraio, F ^{[1
]}

Livesey, K ^{[1
]}

Pointon, JJ ^{[1
]}

Barbabietola, G ^{[1
]}

Piga, A ^{[1
]}

Mackie, PH ^{[1
]}

Robson, KJH ^{[1
]}

Camaschella, C ^{[1
]}

机构：

[1] Univ Turin, Dipartimento Sci Clin & Biol, Azienda Ospedaliera S Luigi, I-10043 Turin, Italy

来源：

BLOOD | 2002年 / 100卷 / 02期

关键词：

D O I：

10.1182/blood-2002-03-0693

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：733 / 734

页数：2

共 10 条

[1] A novel mammalian iron-regulated protein involved in intracellular iron metabolism
Abboud, S
Haile, DJ
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (26) : 19906 - 19912
[2] MAGNETIC-SUSCEPTIBILITY MEASUREMENT OF HUMAN IRON STORES
BRITTENHAM, GM
FARRELL, DE
HARRIS, JW
FELDMAN, ES
DANISH, EH
MUIR, WA
TRIPP, JH
BELLON, EM
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1982, 307 (27) : 1671 - 1675
[3] BRITTENHAM GM, 1988, ANN NY ACAD SCI, V526, P199
[4] Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
Devalia, V
Carter, K
Walker, AP
Perkins, SJ
Worwood, M
May, A
Dooley, JS
[J]. BLOOD, 2002, 100 (02) : 695 - 697
[5] Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
Donovan, A
Brownlie, A
Zhou, Y
Shepard, J
Pratt, SJ
Moynihan, J
Paw, BH
Drejer, A
Barut, B
Zapata, A
Law, TC
Brugnara, C
Kingsley, PD
Palis, J
Fleming, MD
Andrews, NC
Zon, LI
[J]. NATURE, 2000, 403 (6771) : 776 - 781
[6] Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding
Fleming, RE
Sly, WS
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2001, 108 (04) : 521 - 522
[7] A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
McKie, AT
Marciani, P
Rolfs, A
Brennan, K
Wehr, K
Barrow, D
Miret, S
Bomford, A
Peters, TJ
Farzaneh, F
Hediger, MA
Hentze, MW
Simpson, RJ
[J]. MOLECULAR CELL, 2000, 5 (02) : 299 - 309
[8] Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
Montosi, G
Donovan, A
Totaro, A
Garuti, C
Pignatti, E
Cassanelli, S
Trenor, CC
Gasparini, P
Andrews, NC
Pietrangelo, A
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2001, 108 (04) : 619 - 623
[9] A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
Njajou, OT
Vaessen, N
Joosse, M
Berghuis, B
van Dongen, JWF
Breuning, MH
Snijders, PJLM
Rutten, WPF
Sandkuijl, LA
Oostra, BA
van Duijn, CM
Heutink, P
[J]. NATURE GENETICS, 2001, 28 (03) : 213 - 214
[10] Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis
Wallace, DF
Pedersen, P
Dixon, JL
Stephenson, P
Searle, JW
Powell, LW
Subramaniam, VN
[J]. BLOOD, 2002, 100 (02) : 692 - 694

← 1 →