A Common Intron 3 Mutation (IVS3 -48c→g) Leads to Misdiagnosis of the c.845G→A (C282Y) HFE Gene Mutation

By Beutler E.   Gelbart T.  

Blood Cells, Molecules, and Diseases, Vol. 26, Iss. 3, 2000-06 ,pp. : 229-233

Academic Press

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Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

By Coulter-Mackie M.B.   Gagnier L.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 2, 2003-06 ,pp. : 91-98

Elsevier

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Relation between HFE Mutations and Mild Iron-Overload Expression

By Mura C.   Le Gac G.   Raguénes O.   Mercier A-Y.   Le Guen A.   Férec C.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 4, 2000-04 ,pp. : 295-301

Academic Press

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Frequency of the hemochromatosis gene ( HFE ) 282C→Y, 63H→D, and 65S→C mutations in a general Mediterranean population from Tarragona, Spain

By Aranda Núria   Viteri Fernando   Fernández-Ballart Joan   Murphy Michelle   Arija Victoria  

Annals of Hematology, Vol. 86, Iss. 1, 2007-01 ,pp. : 17-21

Springer Publishing Company

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Nramp2 Analysis in Hemochromatosis Probands

By Le Gac G.   Mura C.   Raguenes O.   Mercier A-Y.   de Braekeleer M.   Férec C.  

Blood Cells, Molecules, and Diseases, Vol. 26, Iss. 4, 2000-08 ,pp. : 312-319

Academic Press

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