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Volumn 33, Issue 11, 2010, Pages 2336-2338

Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: A case report

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; ISOPHANE INSULIN; PANCREAS ISLET CELL ANTIBODY; SULFONYLUREA DERIVATIVE;

EID: 79951710494     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc10-0561     Document Type: Article
Times cited : (26)

References (10)
  • 1
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001;345:971-980
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 3
    • 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
    • DOI 10.1002/humu.20357
    • 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;27:854-869 (Pubitemid 44336935)
    • (2006) Human Mutation , vol.27 , Issue.9 , pp. 854-869
    • Ellard, S.1    Colclough, K.2
  • 5
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acid Res 2003;31:3812-3814 (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 9
    • 3042779894 scopus 로고    scopus 로고
    • Cosegragation of MIDD and MODY in a pedigree: Functional and clinical consequences
    • DOI 10.2337/diabetes.53.7.1894
    • Cervin C, Liljeström B, Tuomi T, Heikkinen S, Tapanainen JS, Groop L, Cilio CM. Cosegregation of MIDD and MODY in a pedigree: functional and clinical consequences. Diabetes 2004;53:1894-1899 (Pubitemid 38857050)
    • (2004) Diabetes , vol.53 , Issue.7 , pp. 1894-1899
    • Cervin, C.1    Liljestrom, B.2    Tuomi, T.3    Heikkinen, S.4    Tapanainen, J.S.5    Groop, L.6    Cilio, C.M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.