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Literature DB >> 20007136

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.

Gérald Le Gac, Rita Congiu, Isabelle Gourlaouen, Milena Cau, Claude Férec, Maria Antonietta Melis.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2009 PMID： 20007136 PMCID： PMC2857203 DOI： 10.3324/haematol.2009.016816

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

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5 in total

1. West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history.

Authors: M C Grimaldi; B Crouau-Roy; J P Amoros; A Cambon-Thomsen; C Carcassi; S Orru; C Viader; L Contu
Journal: Tissue Antigens Date: 2001-11

2. The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.

Authors: R Lampis; L Morelli; S De Virgiliis; M Congia; F Cucca
Journal: Tissue Antigens Date: 2000-12

3. Homozygous deletion of HFE: the Sardinian hemochromatosis?

Authors: Sara Pelucchi; Raffaella Mariani; Francesca Bertola; Cristina Arosio; Alberto Piperno
Journal: Blood Date: 2009-04-16 Impact factor: 22.113

4. Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

Authors: Gérald Le Gac; Isabelle Gourlaouen; Christophe Ronsin; Vanna Géromel; Anne Bourgarit; Nathalie Parquet; Sylvia Quemener; Cédric Le Maréchal; Jian-Min Chen; Claude Férec
Journal: Blood Date: 2008-09-22 Impact factor: 22.113

5. Frequency of the HFE gene mutations in five Italian populations.

Authors: Giuseppina Candore; Vilma Mantovani; Carmela Rita Balistreri; Domenico Lio; Giuseppina Colonna-Romano; Vincenzo Cerreta; Ciriaco Carru; Luca Deiana; Giovanni Pes; Giuseppe Menardi; Laura Perotti; Valeria Miotti; Elena Bevilacqua; Antonio Amoroso; Calogero Caruso
Journal: Blood Cells Mol Dis Date: 2002 Nov-Dec Impact factor: 3.039

5 in total

3 in total

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.

1. West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history.

2. The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.

3. Homozygous deletion of HFE: the Sardinian hemochromatosis?

4. Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

5. Frequency of the HFE gene mutations in five Italian populations.

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

Review 2. Revisiting hemochromatosis: genetic vs. phenotypic manifestations.

3. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).