Literature DB >> 18450729

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.

V Gérolami1, G Le Gac, L Mercier, M Nezri, J-L Bergé-Lefranc, C Férec.   

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Year:  2008        PMID： 18450729     DOI： 10.3324/haematol.12884

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  4 in total

Review 1.  Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Authors:  J Rochette; G Le Gac; K Lassoued; C Férec; K J H Robson
Journal:  Hum Genet       Date:  2010-07-06       Impact factor: 4.132

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

Authors:  Ricky Joshi; Maya Shvartsman; Erica Morán; Sergi Lois; Jessica Aranda; Anna Barqué; Xavier de la Cruz; Miquel Bruguera; José Manuel Vagace; Guillermo Gervasini; Cristina Sanz; Mayka Sánchez
Journal:  Mol Genet Genomic Med       Date:  2015-03-06       Impact factor: 2.183

Review 3.  The role of hepatic transferrin receptor 2 in the regulation of iron homeostasis in the body.

Authors:  Christal A Worthen; Caroline A Enns
Journal:  Front Pharmacol       Date:  2014-03-06       Impact factor: 5.810

4.  New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Authors:  Gonzalo Hernández; Xenia Ferrer-Cortès; Veronica Venturi; Melina Musri; Martin Floor Pilquil; Pau Marc Muñoz Torres; Ines Hernandez Rodríguez; Maria Àngels Ruiz Mínguez; Nicholas J Kelleher; Sara Pelucchi; Alberto Piperno; Esther Plensa Alberca; Georgina Gener Ricós; Eloi Cañamero Giró; Santiago Pérez-Montero; Cristian Tornador; Jordi Villà-Freixa; Mayka Sánchez
Journal:  Genes (Basel)       Date:  2021-12-13       Impact factor: 4.096
  4 in total

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