SCOPUS 정보 검색 플랫폼

Volumn 105, Issue 1, 2005, Pages 432-

Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy

(7) Jánosi, András b Andrikovics, Hajnalka b Vas, Katalin b Bors, András b Hubay, Márta b Sápi, Zoltán b Tordai, Attila a

a NATIONAL MEDICAL CENTER (Hungary)

b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HEPCIDIN; IRON;

ADULT; ANGIOCARDIOGRAPHY; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE; GENE MUTATION; GENE SEQUENCE; HEMOCHROMATOSIS; HISTOPATHOLOGY; HJV GENE; HOMOZYGOSITY; HUMAN; IRON METABOLISM; IRON OVERLOAD; JUVENILE HEMOCHROMATOSIS; LETTER; MALE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 19944428029 PISSN: 00064971 EISSN: None Source Type: Journal
DOI: 10.1182/blood-2004-09-3508 Document Type: Letter

Times cited : (23)

References (7)

1
- 0036075097
- Natural history of juvenile haemochromatosis
- De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile haemochromatosis. Br J Haematol. 2002;117:973-979.
- (2002) Br J Haematol , vol.117 , pp. 973-979
- De Gobbi, M.¹ Roetto, A.² Piperno, A.³

2
- 9144252017
- Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
- Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004;36:77-82.
- (2004) Nat Genet , vol.36 , pp. 77-82
- Papanikolaou, G.¹ Samuels, M.E.² Ludwig, E.H.³

3
- 2542468736
- Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
- Lanzara C, Roetto A, Daraio F, et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood. 2004;103:4317-4321.
- (2004) Blood , vol.103 , pp. 4317-4321
- Lanzara, C.¹ Roetto, A.² Daraio, F.³

4
- 2942619988
- Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
- Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood. 2004;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

5
- 4644256637
- Identification of a novel mutation (C321X) in HJV
- Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD. Identification of a novel mutation (C321X) in HJV. Blood. 2004;104:2176-2177.
- (2004) Blood , vol.104 , pp. 2176-2177
- Huang, F.W.¹ Rubio-Aliaga, I.² Kushner, J.P.³ Andrews, N.C.⁴ Fleming, M.D.⁵

6
- 20244388240
- Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
- Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33:21-22.
- (2003) Nat Genet , vol.33 , pp. 21-22
- Roetto, A.¹ Papanikolaou, G.² Politou, M.³

7
- 1542283709
- Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R)
- Roetto A, Daraio F, Porporato P, et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood. 2004;103:2407-2409.
- (2004) Blood , vol.103 , pp. 2407-2409
- Roetto, A.¹ Daraio, F.² Porporato, P.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.