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Volumn 51, Issue 1, 2005, Pages 227-229

Novel nonsense mutation causes analbuminemia in a Moroccan family

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PLASMA PROTEIN;

EID: 11144291394     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.040873     Document Type: Article
Times cited : (13)

References (13)
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    • Influence of methodology on the detection and diagnosis of congenital analbuminemia
    • Lyon AW, Meinert P, Bruce GA, Laxdal VA, Salkie ML. Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin Chem 1998;44:2365-7.
    • (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
  • 4
    • 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
  • 6
    • 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
  • 9
    • 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
  • 10
    • 8744303614 scopus 로고    scopus 로고
    • Congenital analbuminemia: Biochemical and clinical complications. A case report and literature review
    • Aug 6 [Epub ahead of print]
    • Koot BGP, Houwen R, Pot DJ, Nauta J. Congenital analbuminemia: biochemical and clinical complications. A case report and literature review. Eur J Pediatr 2004;Aug 6 [Epub ahead of print].
    • (2004) Eur J Pediatr
    • Koot, B.G.P.1    Houwen, R.2    Pot, D.J.3    Nauta, J.4
  • 11
    • 13344278021 scopus 로고    scopus 로고
    • Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
    • Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet 1996;12:100-2.
    • (1996) Nat Genet , vol.12 , pp. 100-102
    • Superti-Furga, A.1    Hastbacka, J.2    Wilcox, W.R.3    Cohn, D.H.4    Van Der Harten, H.J.5    Rossi, A.6
  • 12
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    • Distribution and characterization of regulatory elements in the human genome
    • Majewski J, Ott J. Distribution and characterization of regulatory elements in the human genome. Genome Res 2002;12:1827-36.
    • (2002) Genome Res , vol.12 , pp. 1827-1836
    • Majewski, J.1    Ott, J.2
  • 13
    • 0033049593 scopus 로고    scopus 로고
    • Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection
    • Nataraj AJ, Olivos-Glander I, Kusukawa N, Highsmith WE Jr. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection. Electrophoresis 1999;20:1177-85.
    • (1999) Electrophoresis , vol.20 , pp. 1177-1185
    • Nataraj, A.J.1    Olivos-Glander, I.2    Kusukawa, N.3    Highsmith Jr., W.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.