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Volumn 38, Issue 9, 2005, Pages 819-823

Analbuminemia in a Swiss family is caused by a C → T transition at nucleotide 4446 of the albumin gene

Author keywords

Analbuminemia; Heteroduplex analysis; Human serum albumin; Single strand conformation polymorphism

Indexed keywords

ALBUMIN; ARGININE; CYSTEINE; DNA FRAGMENT; NUCLEOTIDE; OLIGONUCLEOTIDE; THREONINE;

EID: 23244444608     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2005.05.013     Document Type: Article
Times cited : (9)

References (17)
  • 2
    • 0022858318 scopus 로고
    • Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4
    • P.P. Minghetti, D.E. Ruffner, and W.J. Kuang Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4 J. Biol. Chem. 261 1986 6747 6757
    • (1986) J. Biol. Chem. , vol.261 , pp. 6747-6757
    • Minghetti, P.P.1    Ruffner, D.E.2    Kuang, W.J.3
  • 3
    • 33644482662 scopus 로고    scopus 로고
    • The Albumin Website.
    • The Albumin Website. Available at: http://www.albumin.org.
  • 4
    • 0031728983 scopus 로고    scopus 로고
    • Influence of methodology on the detection and diagnosis of congenital analbuminemia
    • A.W. Lyon, P. Meinert, G.A. Bruce, V.A. Laxdal, and M.L. Salkie Influence of methodology on the detection and diagnosis of congenital analbuminemia Clin. Chem. 44 1998 2365 2367
    • (1998) Clin. Chem. , vol.44 , pp. 2365-2367
    • Lyon, A.W.1    Meinert, P.2    Bruce, G.A.3    Laxdal, V.A.4    Salkie, M.L.5
  • 7
    • 11144291394 scopus 로고    scopus 로고
    • Novel non-sense mutation causes analbuminemia in a Moroccan family
    • M. Campagnoli, A. Sala, and A. Romano Novel non-sense mutation causes analbuminemia in a Moroccan family Clin. Chem. 51 2005 227 229
    • (2005) Clin. Chem. , vol.51 , pp. 227-229
    • Campagnoli, M.1    Sala, A.2    Romano, A.3
  • 8
    • 18444400843 scopus 로고    scopus 로고
    • Molecular diagnosis of analbuminemia: A novel mutation identified in two Amerindian and two Turkish families
    • M. Galliano, M. Campagnoli, and A. Rossi Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families Clin. Chem. 48 2002 844 849
    • (2002) Clin. Chem. , vol.48 , pp. 844-849
    • Galliano, M.1    Campagnoli, M.2    Rossi, A.3
  • 10
    • 0037005906 scopus 로고    scopus 로고
    • A novel splicing mutation causes an undescribed type of analbuminemia
    • M. Campagnoli, A. Rossi, and L. Palmqvist A novel splicing mutation causes an undescribed type of analbuminemia Biochim. Biophys. Acta 1586/1 2002 43 49
    • (2002) Biochim. Biophys. Acta , vol.1586 , Issue.1 , pp. 43-49
    • Campagnoli, M.1    Rossi, A.2    Palmqvist, L.3
  • 11
    • 13344278021 scopus 로고    scopus 로고
    • Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
    • A. Superti-Furga, J. Hastbacka, and W.R. Wilcox Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene Nat. Genet. 12 1996 100 102
    • (1996) Nat. Genet. , vol.12 , pp. 100-102
    • Superti-Furga, A.1    Hastbacka, J.2    Wilcox, W.R.3
  • 12
    • 0033049593 scopus 로고    scopus 로고
    • Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection
    • A.J. Nataraj, I. Olivos-Glander, N. Kusukawa, and W.E. Highsmith Jr. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection Electrophoresis 20 1999 1177 1185
    • (1999) Electrophoresis , vol.20 , pp. 1177-1185
    • Nataraj, A.J.1    Olivos-Glander, I.2    Kusukawa, N.3    Highsmith Jr., W.E.4
  • 13
    • 0036361794 scopus 로고    scopus 로고
    • SSCP/heteroduplex analysis
    • A.J. Wallace SSCP/heteroduplex analysis Methods Mol. Biol. 187 2002 151 163
    • (2002) Methods Mol. Biol. , vol.187 , pp. 151-163
    • Wallace, A.J.1
  • 14
    • 0042023988 scopus 로고
    • Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations
    • N. Takahashi, Y. Takahashi, and T. Isobe Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations Proc. Natl. Acad. Sci. U. S. A. 84 1987 8001 8005
    • (1987) Proc. Natl. Acad. Sci. U. S. A. , vol.84 , pp. 8001-8005
    • Takahashi, N.1    Takahashi, Y.2    Isobe, T.3
  • 15
    • 0021366157 scopus 로고
    • Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
    • D. Barker, M. Schafer, and R. White Restriction sites containing CpG show a higher frequency of polymorphism in human DNA Cell 36 1984 131 138
    • (1984) Cell , vol.36 , pp. 131-138
    • Barker, D.1    Schafer, M.2    White, R.3
  • 16
    • 0022967463 scopus 로고
    • Recurrent mutations in haemophilia a give evidence for CpG mutation hotspots
    • H. Youssoufian, H.H. Kazazian Jr., and D.G. Phillips Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots Nature 324 1986 380 382
    • (1986) Nature , vol.324 , pp. 380-382
    • Youssoufian, H.1    Kazazian Jr., H.H.2    Phillips, D.G.3
  • 17
    • 0025337613 scopus 로고
    • Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene
    • S.O. Brennan, K. Arai, and J. Madison Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene Proc. Natl. Acad. Sci. U. S. A. 87 1990 3909 3913
    • (1990) Proc. Natl. Acad. Sci. U. S. A. , vol.87 , pp. 3909-3913
    • Brennan, S.O.1    Arai, K.2    Madison, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.