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Volumn 65, Issue 10, 2010, Pages 1059-1060

A missense TCF1 mutation in a patient with mody-3 and liver adenomatosis

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HNF1A PROTEIN, HUMAN;

EID: 78649803904     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1807-59322010001000024     Document Type: Letter
Times cited : (5)

References (10)
  • 1
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    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • doi: 10.1056/NEJMra002168
    • Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345:971-80, doi: 10.1056/NEJMra002168.
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 4
    • 0018194976 scopus 로고
    • Berman MM Familial liver-cell adenomas and diabetes mellitus
    • doi: 10.1056/ NEJM197808032990508
    • Foster JH, Donohue TA, Berman MM Familial liver-cell adenomas and diabetes mellitus. N Engl J Med. 1978;299:239-41, doi: 10.1056/ NEJM197808032990508.
    • (1978) N Engl J Med , vol.299 , pp. 239-241
    • Foster, J.H.1    Donohue, T.A.2
  • 5
    • 0033977244 scopus 로고    scopus 로고
    • Liver adenomatosis: Reappraisal, diagnosis, and surgical management: Eight new cases and review of the literature
    • 10.1097/00000658-200001000-00011
    • Chiche L, Dao T, Salame E, Galais MP, Bouvard N, Schmutz G, et al. Liver adenomatosis: reappraisal, diagnosis, and surgical management: eight new cases and review of the literature. Ann Surg. 2000;231:74-81, doi: 10.1097/00000658-200001000-00011.
    • (2000) Ann Surg , vol.231 , pp. 74-81
    • Chiche, L.1    Dao, T.2    Salame, E.3    Galais, M.P.4    Bouvard, N.5    Schmutz, G.6
  • 7
    • 0242490240 scopus 로고    scopus 로고
    • Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation
    • doi: 10. 1016/j.gastro.2003.07.012
    • Bacq Y, Jacquemin E, Balabaud C, Jeannot E, Scotto B, Branchereau S, et al. Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation. Gastroenterology. 2003;125:1470-5, doi: 10. 1016/j.gastro.2003.07.012.
    • (2003) Gastroenterology , vol.125 , pp. 1470-1475
    • Bacq, Y.1    Jacquemin, E.2    Balabaud, C.3    Jeannot, E.4    Scotto, B.5    Branchereau, S.6
  • 8
    • 12144289307 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor-1 alpha gene inactivation: Cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families
    • 10.1210/jc.2003-031552
    • Reznik Y, Dao T, Coutant R, Chiche L, Jeannot E, Clauin S, et al. Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. J Clin Endocrinol Metab. 2004;89:1476-80, doi: 10.1210/jc.2003-031552.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 1476-1480
    • Reznik, Y.1    Dao, T.2    Coutant, R.3    Chiche, L.4    Jeannot, E.5    Clauin, S.6
  • 9
    • 33748357551 scopus 로고    scopus 로고
    • Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young
    • Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat. 2006;27:854-69, doi: 10.1002/humu.20357.
    • (2006) Hum Mutat , vol.27 , pp. 854-869
    • Ellard, S.1    Colclough, K.2
  • 10
    • 0038353162 scopus 로고    scopus 로고
    • Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3
    • Kim KA, Kang K, Chi YI, Chang I, Lee MK, Kim KW, et al. Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3. Diabeto-logia. 2003;46:721-7.
    • (2003) Diabeto-logia , vol.46 , pp. 721-727
    • Kim, K.A.1    Kang, K.2    Chi, Y.I.3    Chang, I.4    Lee, M.K.5    Kim, K.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.