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Volumn 51, Issue 7, 2005, Pages 1256-1258

Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; SERUM ALBUMIN;

EID: 23444449312     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.048561     Document Type: Article
Times cited : (22)

References (20)
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    • (1998) Clin Chem , vol.44 , pp. 2365-2367
    • Lyon, A.W.1    Meinert, P.2    Bruce, G.A.3    Laxda, V.A.4    Salkie, M.L.5
  • 3
    • 8744303614 scopus 로고    scopus 로고
    • Congenital analbuminaemia: Biochemical and clinical implications. A case report and literature review
    • Koot BG, Houwen R, Pot DJ, Nauta J. Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. Eur J Pediatr 2004;163:664-70.
    • (2004) Eur J Pediatr , vol.163 , pp. 664-670
    • Koot, B.G.1    Houwen, R.2    Pot, D.J.3    Nauta, J.4
  • 6
    • 30544436167 scopus 로고    scopus 로고
    • Peters T. Albumin website. http//www.albumin.org (accessed March 5, 2005).
    • Peters, T.1
  • 7
    • 0019415456 scopus 로고
    • Further studies on plasma proteins, lipids, and dye- and drug-binding in a child with analbuminemia
    • Frohlich J, Pudek MR, Cormode EJ, Sellers EM, Abel JG. Further studies on plasma proteins, lipids, and dye- and drug-binding in a child with analbuminemia. Clin Chem 1981;27:1213-6.
    • (1981) Clin Chem , vol.27 , pp. 1213-1216
    • Frohlich, J.1    Pudek, M.R.2    Cormode, E.J.3    Sellers, E.M.4    Abel, J.G.5
  • 9
    • 0022858318 scopus 로고
    • Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4
    • Minghetti PP, Ruffner DE, Kuang WJ, Dennison OE, Hawkins JW, Beattie WG, et al. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem 1986; 261:6747-57.
    • (1986) J Biol Chem , vol.261 , pp. 6747-6757
    • Minghetti, P.P.1    Ruffner, D.E.2    Kuang, W.J.3    Dennison, O.E.4    Hawkins, J.W.5    Beattie, W.G.6
  • 12
    • 18444400843 scopus 로고    scopus 로고
    • Molecular diagnosis of analbuminemia: A novel mutation identified in two Amerindian and two Turkish families
    • Galliano M, Campagnoli M, Rossi A, Wirsing von Konig CH, Lyon AW, Cefle K, et al. Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin Chem 2002;48:844-9.
    • (2002) Clin Chem , vol.48 , pp. 844-849
    • Galliano, M.1    Campagnoli, M.2    Rossi, A.3    Wirsing Von Konig, C.H.4    Lyon, A.W.5    Cefle, K.6
  • 14
    • 0024121603 scopus 로고
    • Splicing mutation in human hereditary analbuminemia
    • Ruffner DE, Dugaiczyk A. Splicing mutation in human hereditary analbuminemia Proc Natl Acad Sci U S A 1988;85:2125-9.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 2125-2129
    • Ruffner, D.E.1    Dugaiczyk, A.2
  • 17
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    • Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia
    • Del Ben M, Burattin M, Arca M, Ceci F, Violi F, Angelico F. Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. Am J Med 2004;117:803-4.
    • (2004) Am J Med , vol.117 , pp. 803-804
    • Del Ben, M.1    Burattin, M.2    Arca, M.3    Ceci, F.4    Violi, F.5    Angelico, F.6
  • 20
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    • Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats
    • Shalaby F, Shafritz DA. Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats. Proc Natl Acad Sci U S A 1990;87:2652-6.
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 2652-2656
    • Shalaby, F.1    Shafritz, D.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.