Functional consequences of transferrin receptor‐2 mutations causing hereditary hemochromatosis type 3-Reference-Cited by-同舟云学术

Functional consequences of transferrin receptor‐2 mutations causing hereditary hemochromatosis type 3

Published:2015-03-06 Issue:3 Volume:3 Page:221-232
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Joshi Ricky¹,Shvartsman Maya¹,Morán Erica¹²,Lois Sergi³,Aranda Jessica¹²,Barqué Anna¹²,Cruz Xavier³⁴,Bruguera Miquel⁵,Vagace José Manuel⁶,Gervasini Guillermo⁷,Sanz Cristina⁸,Sánchez Mayka¹²

Affiliation:

1. Cancer and Iron Group and Advanced Genetic Diagnostic Unit of Rare Iron Disorders (UDGAEMH) Institut of Predictive and Personalized Medicine of Cancer (IMPPC) Barcelona Spain

2. Diagnostics in Iron Metabolism Service (D·IRON) and Iron Metabolism: Regulation and Diseases group Josep Carreras Leukemia Research Institute (IJC) Barcelona Spain

3. Vall d'Hebron Research Institute (VHIR) Barcelona Spain

4. Institució Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Catalonia Spain

5. Service of Hepatology Clinic Hospital of Barcelona Barcelona Spain

6. Service of Haematology Hospital Materno‐Infantil de Badajoz Badajoz Spain

7. Department of Surgical & Medical Therapeutics University of Extremadura Badajoz Spain

8. Service of Haematology and Hemotherapy Clinic Hospital of Barcelona Barcelona Spain

Funder

“Ayudas a proyectos de Investigación en Ciéncias de la Vida” from Ramon Areces Private Foundation

Ministry of Economy and Competitiveness

Spanish Ministry of Science and Innovation

Federation of European Biochemical Societies

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.136

Reference42 articles.

1. EASL clinical practice guidelines for HFE hemochromatosis

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3. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

4. Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

5. A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2;Bartnikas T. B.;Comp. Med.,2013

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