Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form-Reference-Cited by-同舟云学术

Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form

Published:2012-07-05 Issue:5 Volume:158 Page:668-672
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Pellegrino Rosa M.¹,Coutinho Maria²,D'Ascola Domenico³,Lopes Ana M.⁴,Palmieri Antonietta¹,Carnuccio Francesca¹,Costa Mónica⁵,Zecchina Gabriella¹,Saglio Giuseppe¹,Costa Emília⁶,Barbot José⁶,Porto Graça,Pinto Jorge P.,Roetto Antonella¹

Affiliation:

1. Department of Clinical and Biological Sciences; University of Torino; AOU San Luigi Gonzaga; Orbassano; Torino; Italy

2. Clinical Haematology, CHP-HSA; Hospital de Santo António; Oporto; Portugal

3. U.O.C. Centro Microcitemie; Azienda Ospedaliera Reggio Calabria; Reggio Calabria; Italy

4. Centre for Predictive and Preventive Genetics, CGPP; IBMC - Instituto de Biologia Molecular e Celular; Universidade do Porto; Oporto

5. Basic and Clinical Research on Iron Biology; IBMC - Instituto de Biologia Molecular e Celular; Universidade do Porto; Oporto

6. Paediatric Haematology Unit, CHP, HSA; Hospital de Santo António; Oporto; Portugal

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2012.09198.x/fullpdf

Reference6 articles.

1. Genetic variability of TMPRSS6 and its association with iron deficiency anaemia;Delbini;British Journal of Haematology,2010

2. Human Splicing Finder: an online bioinformatics tool to predict splicing signals;Desmet;Nucleic Acid Research,2009

3. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA);Falco;Human Mutation,2010

4. Iron-refractory iron deficiency anemia;Finberg;Seminars in Hematology,2009

5. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA);Finberg;Nature Genetics,2008

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