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Volumn 614, Issue , 2008, Pages 145-150

Alanine in HI: A silent mutation cries out!

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; TRANSFER RNA;

EID: 84934443833     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-74911-2_17     Document Type: Conference Paper
Times cited : (12)

References (12)
  • 3
    • 0032875616 scopus 로고    scopus 로고
    • Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis
    • Davis EA, Cuesta-Munoz A, Raoul M, Buettger C, Sweet I, Moates M, Magnuson MA, Matschinsky FM. Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. Diabetologia, 1999. 42(10), 1175-1186.
    • (1999) Diabetologia , vol.42 , Issue.10 , pp. 1175-1186
    • Davis, E.A.1    Cuesta-Munoz, A.2    Raoul, M.3    Buettger, C.4    Sweet, I.5    Moates, M.6    Magnuson, M.A.7    Matschinsky, F.M.8
  • 5
    • 0347990591 scopus 로고    scopus 로고
    • Familial Hyperinsulinemic Hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation
    • Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E, Sovik O. Familial Hyperinsulinemic Hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes, 2004. 53(1), 221-227.
    • (2004) Diabetes , vol.53 , Issue.1 , pp. 221-227
    • Molven, A.1    Matre, G.E.2    Duran, M.3    Wanders, R.J.4    Rishaug, U.5    Njolstad, P.R.6    Jellum, E.7    Sovik, O.8
  • 6
    • 0037110959 scopus 로고    scopus 로고
    • Hunting for a hypoglycemia gene: Severe neonatal hypoglycemia in a consanguineous family
    • Molven A, Rishaug U, Matre GE, Njolstad PR, Sovik O. Hunting for a hypoglycemia gene: Severe neonatal hypoglycemia in a consanguineous family. Am J Med Genet, 2002. 113(1), 40-46.
    • (2002) Am J Med Genet , vol.113 , Issue.1 , pp. 40-46
    • Molven, A.1    Rishaug, U.2    Matre, G.E.3    Njolstad, P.R.4    Sovik, O.5
  • 8
    • 85069141239 scopus 로고    scopus 로고
    • The role of ATP sensitive channels in insulin secretion and the implications in Persistent Hyperinsulinemic Hypoglycaemia of Infancy (PHHI)
    • In Press
    • Shah JH, Maguire DJ, Brown D, Cotterill AM. The role of ATP sensitive channels in insulin secretion and the implications in Persistent Hyperinsulinemic Hypoglycaemia of Infancy (PHHI), In Press.
    • Shah, J.H.1    Maguire, D.J.2    Brown, D.3    Cotterill, A.M.4
  • 9
    • 85069140198 scopus 로고    scopus 로고
    • Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. dbSNP accession:{ rs5218}. Available from: http://www.ncbi.nlm.nih.gov/SNP/
    • Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. dbSNP accession:{ rs5218}. Available from: http://www.ncbi.nlm.nih.gov/SNP/
  • 11
    • 0030854739 scopus 로고    scopus 로고
    • tRNAscan-SE: A program for improved detection of transfer RNA genes in genomic sequence
    • The genomic tRNA database, http://lowelab.ucsc.edu/GtRNAdb
    • Lowe TM, Eddy SR. tRNAscan-SE: A program for improved detection of transfer RNA genes in genomic sequence Nucl. Acids Res. 1997. 25, 955-964. (The genomic tRNA database. (http://lowelab.ucsc.edu/GtRNAdb/)
    • (1997) Nucl. Acids Res , vol.25 , pp. 955-964
    • Lowe, T.M.1    Eddy, S.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.