Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

被引：9

作者：

Knopf, C

Rod, R

Jaeken, J

Berant, M

Van Schaftingen, E

Fryns, JP

Brill-Zamir, R

Gershoni-Baruch, R

Lischinsky, S

Mandel, H ^{[1
]}

机构：

[1] Technion Israel Inst Technol, Fac Med, Rambam Med Ctr, Dept Pediat, Haifa, Israel

[2] Technion Israel Inst Technol, Fac Med, Rambam Med Ctr, Dept Clin Chem, Haifa, Israel

[3] Technion Israel Inst Technol, Fac Med, Rambam Med Ctr, Dept Clin Genet, Haifa, Israel

[4] Univ Leuven, Ctr Human Genet, Brussels, Belgium

[5] Univ Leuven, Dept Pediat, Brussels, Belgium

[6] Catholic Univ Louvain, Brussels, Belgium

[7] ICP, Brussels, Belgium

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2000年 / 23卷 / 04期

关键词：

D O I：

10.1023/A:1005612120886

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：399 / 403

页数：5

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