메뉴 건너뛰기




Volumn 86, Issue 4, 2007, Pages 379-380

New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FERRITIN; LEUCINE; HFE PROTEIN, HUMAN; HFE2 PROTEIN, HUMAN; HISTIDINE; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 40449084545     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.E0748     Document Type: Letter
Times cited : (6)

References (12)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • JN Feder A Gnirke W Thomas 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nature Genet. 13 399 408
    • (1996) Nature Genet. , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 2
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    • C Camaschella A Roetto A Calì 2000 The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 Nature Genet. 25 14 15
    • (2000) Nature Genet. , vol.25 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Calì, A.3
  • 3
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11 A3 is associated with autosomal dominant hemochromatosis
    • OT Njajou N Vaessen M Joosse 2001 A mutation in SLC11 A3 is associated with autosomal dominant hemochromatosis Nature Genet. 28 213 214
    • (2001) Nature Genet. , vol.28 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 4
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • A Roetto G Papanikolaou M Politou 2003 Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis Nat Genet. 33 21 22
    • (2003) Nat Genet. , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3
  • 5
    • 2942619988 scopus 로고    scopus 로고
    • Genetic abnormalities and juvenile hemochromatosis: Mutations of theHJV gene encoding hemojuvelin
    • PL Lee E Beutler SV Rao JC Barton 2004 Genetic abnormalities and juvenile hemochromatosis: mutations of theHJV gene encoding hemojuvelin Blood. 103 4669 4671
    • (2004) Blood. , vol.103 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3    Barton, J.C.4
  • 6
    • 33845902249 scopus 로고    scopus 로고
    • H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
    • C de Diego S Opazo MJ Murga P Martínez-Castro 2007 H63D homozygotes with hyperferritinaemia: is this genotype, the primary cause of iron overload? Eur J Haematol. 78 66 71
    • (2007) Eur J Haematol. , vol.78 , pp. 66-71
    • De Diego, C.1    Opazo, S.2    Murga, M.J.3    Martínez-Castro, P.4
  • 7
    • 0034999045 scopus 로고    scopus 로고
    • Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
    • P Aguilar-Martinez M Bismuth MC Picot 2001 Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut. 48 836 842
    • (2001) Gut. , vol.48 , pp. 836-842
    • Aguilar-Martinez, P.1    Bismuth, M.2    Picot, M.C.3
  • 8
    • 0842283228 scopus 로고    scopus 로고
    • Non-invasive assessment of hepatic iron stores by MRI
    • Y Gandon D Olivié D Guyader 2004 Non-invasive assessment of hepatic iron stores by MRI Lancet. 363 357 362
    • (2004) Lancet. , vol.363 , pp. 357-362
    • Gandon, Y.1    Olivié, D.2    Guyader, D.3
  • 9
    • 10744225120 scopus 로고    scopus 로고
    • Digenic inheritance of mutations inHAMP andHFE results in different types of haemochromatosis
    • AT Merryweather-Clarke E Cadet A Bomford 2003 Digenic inheritance of mutations inHAMP andHFE results in different types of haemochromatosis Hum Molec Genet. 12 2241 2247
    • (2003) Hum Molec Genet. , vol.12 , pp. 2241-2247
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3
  • 10
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • G Le Gac V Scotet C Ka 2004 The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Hum Mol Genet. 13 1913 1918
    • (2004) Hum Mol Genet. , vol.13 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3
  • 11
    • 1642367900 scopus 로고    scopus 로고
    • HAMP as a modifier gene that increases the phenotypic expression of theHFE pC282Y homozygous genotype
    • S Jacolot Gac G Le V Scotet I Quere C Mura C Ferec 2004 HAMP as a modifier gene that increases the phenotypic expression of theHFE pC282Y homozygous genotype Blood 103 2835 2840
    • (2004) Blood , vol.103 , pp. 2835-2840
    • Jacolot, S.1    Le Gac, G.2    Scotet, V.3    Quere, I.4    Mura, C.5    Ferec, C.6
  • 12
    • 34247648126 scopus 로고    scopus 로고
    • Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl
    • P Aguilar-Martínez CY Lok S Cunat E Cadet K Robson J Rochette 2007 Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl Haematologica. 92 421 422
    • (2007) Haematologica. , vol.92 , pp. 421-422
    • Aguilar-Martínez, P.1    Lok, C.Y.2    Cunat, S.3    Cadet, E.4    Robson, K.5    Rochette, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.