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

被引:20
作者
Campagna, F
Fioretti, F
Burattin, M
Romeo, S
Sentinelli, F
Bifolco, M
Sirinian, MI
Del Ben, M
Angelico, F
Arca, M
机构
[1] Univ Roma La Sapienza, Dept Clin & Appl Med Therapy, I-00161 Rome, Italy
[2] Univ Roma La Sapienza, Dept Clin Sci, I-00161 Rome, Italy
[3] Univ Roma La Sapienza, Dept Expt Med & Pathol, Div Internal Med 4, I-00161 Rome, Italy
关键词
D O I
10.1373/clinchem.2005.048561
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
[No abstract available]
引用
收藏
页码:1256 / 1258
页数:3
相关论文
共 20 条
[1]  
BOMAN H, 1976, CLIN GENET, V9, P513
[2]  
Campagnoli M, 2005, CLIN CHEM, V51, P227
[3]   A novel splicing mutation causes an undescribed type of analbuminemia [J].
Campagnoli, M ;
Rossi, A ;
Palmqvist, L ;
Flisberg, A ;
Niklasson, A ;
Minchotti, L ;
Galliano, M .
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2002, 1586 (01) :43-49
[4]  
Del Ben M, 2004, AM J MED, V117, P803
[5]   A 7-BASE-PAIR DELETION IN AN INTRON OF THE ALBUMIN GENE OF ANALBUMINEMIC RATS [J].
ESUMI, H ;
TAKAHASHI, Y ;
SATO, S ;
NAGASE, S ;
SUGIMURA, T .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (01) :95-99
[6]  
FROHLICH J, 1981, CLIN CHEM, V27, P1213
[7]  
Galliano M, 2002, CLIN CHEM, V48, P844
[8]  
Gössi B, 2000, SCHWEIZ MED WSCHR, V130, P583
[9]   Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review [J].
Koot, BGP ;
Houwen, R ;
Pot, DJ ;
Nauta, J .
EUROPEAN JOURNAL OF PEDIATRICS, 2004, 163 (11) :664-670
[10]  
Lyon AW, 1998, CLIN CHEM, V44, P2365