A novel assay for studying the hepcidin-ferroportin axis and its application in characterizing a new SLC40A1 mutation

被引：0

作者：

Wallace, D. F. ^{[1
,2
,3
]}

Mcdonald, C. J. ^{[3
]}

Ostini, L. ^{[3
]}

Iser, D. ^{[4
]}

Tuckfield, A. ^{[5
]}

Subramaniam, V. N. ^{[1
,2
,3
]}

机构：

[1] Queensland Univ Technol, Inst Hlth & Biomed Innovat, Brisbane, Qld, Australia

[2] Queensland Univ Technol, Sch Biomed Sci, Brisbane, Qld, Australia

[3] QIMR Berghofer Med Res Inst, Membrane Transport Lab, Brisbane, Qld, Australia

[4] St Vincents Hosp, Dept Gastroenterol, Melbourne, Vic, Australia

[5] Royal Melbourne Hosp, Melbourne, Vic, Australia

来源：

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | 2017年 / 32卷

关键词：

D O I：

暂无

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：12 / 12

页数：1

共 23 条

[11] Novel mutations of the ferroportin gene (SLC40A1):: analysis of 56 consecutive patients with unexplained iron overload
Pelucchi, S.
Mariani, R.
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Bonfadini, S.
Riva, A.
Bertola, F.
Trombini, P.
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CLINICAL GENETICS, 2008, 73 (02) : 171 - 178
[12] Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4
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[13] Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report
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[14] Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report
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[15] A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia
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Bignell, Patricia
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BRITISH JOURNAL OF HAEMATOLOGY, 2010, 149 (06) : 914 - 916
[16] Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients
Le Tertre, M.
Ka, C.
Guellec, J.
Gourlaouen, I.
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Callebaut, I.
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TRANSFUSION CLINIQUE ET BIOLOGIQUE, 2017, 24 (04) : 462 - 467
[17] The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism
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[18] WHAT TO CONSIDER WHEN RESULTS SHOW HYPERFERRITINEMIA AND NORMAL IRON SATURATION IN AN ASIAN POPULATION; IT COULD BE FERROPORTIN DISEASE: A FAMILY STUDY WITH SLC40A1 GENE MUTATION
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[19] Identification of a Novel SLC40A1 Arg88Ile Mutation in a Patient with Familial Iron Overload Treated By Phlebotomy
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Finberg, Karin E.
BLOOD, 2015, 126 (23)
[20] Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene A case report and a review of the literature
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