High prevalence of non-HFE gene-associated haemochromatosis in patients from southern Italy-Reference-Cited by-同舟云学术

High prevalence of non-HFE gene-associated haemochromatosis in patients from southern Italy

Published:2004-01-16 Issue:1 Volume:42 Page:
ISSN:1437-4331
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:
Short-container-title:

Author:

Marco F. De,Liguori R.,Giardina M. G.,D'Armiento M.,Angelucci E.,Lucariello A.,Morante R.,Cimino L.,Galeota-Lanza A.,Tarantino G.,Ascione A.,Budillon G.,Vecchione R.,Martinelli R.,Matarazzo M.,Simone V. De

Abstract

AbstractHereditary haemochromatosis is an autosomal recessive disorder of iron regulation that results in abnormal intestinal iron absorption with progressive iron overloading of parenchymal cells. Two specific, single point mutations of the

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/CCLM.2004.005/pdf

Reference54 articles.

1. EASL International Con - sensus Conference on Haemochromatosis;Adams;J Hepatol,2000

2. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with haemochro - matosis;Piperno;Gastroenterology,2000

3. A novel MHC class I - like gene is mutated in patients with hereditary haemochromatosis Fe rec HFE mutations analysis in haemochromatosis probands : evidence for implication in mild form of haemochromatosis;Feder;Nat Genet Blood,1996

4. D Ambrosio Mutation Analysis of the HLA - H Gene in Italian haemochromatosis patients;Carella;Am J Hum Genet,1997

5. Mechanism of increased iron absorption in murine model of hereditary haemochromatosis : increased duodenal expression of the iron transporter DMT;Fleming;Proc Natl Acad Sci USA,1999

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Vascular smooth muscle cell dysfunction in patients with hemochromatosis;Internal and Emergency Medicine;2022-10-14

2. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH);European Journal of Human Genetics;2015-07-08

3. Iron Metabolism and Related Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. HFE mutations and transferrin C1/C2 polymorphism among Croatian patients with schizophrenia and schizoaffective disorder;Molecular Biology Reports;2011-06-04

5. EASL clinical practice guidelines for HFE hemochromatosis;Journal of Hepatology;2010-07