Literature DB >> 26174684

Intragenic haplotype analysis of common HFE mutations in the Portuguese population.

Sandra Toste1, Luís Relvas, Catarina Pinto, Celeste Bento, Augusto Abade, M Letícia Ribeiro, Licínio Manco.   

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Year:  2015        PMID： 26174684     DOI： 10.1007/s12041-015-0510-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  19 in total

1.  The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of Russia and possible effects of these single-nucleotide polymorphisms in splicing.

Authors:  Svetlana Vladimirovna Mikhailova; Vladimir Nikolaevich Babenko; Mikhail Ivanovich Voevoda; Aida Gerasimovna Romashchenko
Journal:  Genet Test Mol Biomarkers       Date:  2010-08

2.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors:  J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

3.  SNP and haplotype analysis reveals new HFE variants associated with iron overload trait.

Authors:  Yizhen Yang; Claude Férec; Catherine Mura
Journal:  Hum Mutat       Date:  2011-02-08       Impact factor: 4.878

4.  New diallelic markers in the HLA region of chromosome 6.

Authors:  E Beutler; C West
Journal:  Blood Cells Mol Dis       Date:  1997-08       Impact factor: 3.039

5.  H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.

Authors:  Barjinderjit Kaur Dhillon; Swami Prakash; G R Chandak; Y K Chawla; Reena Das
Journal:  J Genet       Date:  2012-08       Impact factor: 1.166

6.  The prevalence of primary hereditary hemochromatosis in central Anatolia.

Authors:  Halit Karaca; Kadri Güven; Müge Önal; Şebnem Gürsoy; Mevlüt Başkol; Yusuf Özkul
Journal:  Turk J Gastroenterol       Date:  2013       Impact factor: 1.852

7.  Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis.

Authors:  G Porto; H Alves; P Rodrigues; J M Cabeda; C Portal; A Ruivo; B Justiça; R Wolff; M De Sousa
Journal:  Immunogenetics       Date:  1998-04       Impact factor: 2.846

8.  Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden.

Authors:  Karl Sigvard Olsson; Jan Konar; Inge Hoegh Dufva; Anne Ricksten; Ruma Raha-Chowdhury
Journal:  Eur J Haematol       Date:  2010-11-30       Impact factor: 2.997

9.  A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?

Authors:  Gérard Lucotte; Florent Dieterlen
Journal:  Blood Cells Mol Dis       Date:  2003 Sep-Oct       Impact factor: 3.039

10.  Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required.

Authors:  Orit Reish; Niva Shefer-Kaufmann; Daphne Chapman Shimshoni; Paul Renbaum; Avi Orr-Urtreger; Hillel Steiner; Micha Rapoport; Ephrat Levy-Lahad; Gheona Altarescu
Journal:  Genet Med       Date:  2010-02       Impact factor: 8.822
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