Literature DB >> 20007134

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.

Patricia Aguilar-Martinez, Muriel Giansily-Blaizot, Michael Bismuth, Séverine Cunat, Hélène Igual, Jean François Schved.   

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Year:  2009        PMID: 20007134      PMCID: PMC2857204          DOI: 10.3324/haematol.2009.018028

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


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  4 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.  Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

Authors:  P Aguilar-Martinez; M Bismuth; M C Picot; C Thelcide; G P Pageaux; F Blanc; P Blanc; J F Schved; D Larrey
Journal:  Gut       Date:  2001-06       Impact factor: 23.059

3.  HAMP promoter mutation nc.-153C>T in 785 HEIRS study participants.

Authors:  James C Barton; Catherine Leiendecker-Foster; Honggui Li; Susie DelRio-LaFreniere; Ronald T Acton; John H Eckfeldt
Journal:  Haematologica       Date:  2009-10       Impact factor: 9.941

4.  A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.

Authors:  Marie-Laure Island; Anne-Marie Jouanolle; Annick Mosser; Yves Deugnier; Véronique David; Pierre Brissot; Olivier Loréal
Journal:  Haematologica       Date:  2009-03-13       Impact factor: 9.941

  4 in total
  1 in total

1.  Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant.

Authors:  Silvia Parajes; Arturo González-Quintela; Joaquín Campos; Celsa Quinteiro; Fernando Domínguez; Lourdes Loidi
Journal:  BMC Genet       Date:  2010-12-10       Impact factor: 2.797

  1 in total

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