Literature DB >> 12630967

Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene.

S M Kinkely, B D Brown, A T Lyng, W K Harrison, G N Schep, A C Goddard-Hill, M E Aubrey, D Lillicrap, S A M Taylor.   

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Year:  2003        PMID： 12630967     DOI： 10.1034/j.1399-0004.2003.00028.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Authors:  Patricia Aguilar-Martinez; Bernard Grandchamp; Séverine Cunat; Estelle Cadet; François Blanc; Marlène Nourrit; Kaiss Lassoued; Jean-François Schved; Jacques Rochette
Journal:  Haematologica       Date:  2011-01-12       Impact factor: 9.941

Review 2.  Recent advances in understanding haemochromatosis: a transition state.

Authors:  K J H Robson; A T Merryweather-Clarke; E Cadet; V Viprakasit; M G Zaahl; J J Pointon; D J Weatherall; J Rochette
Journal:  J Med Genet       Date:  2004-10       Impact factor: 6.318
  2 in total

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