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

作者信息

Knopf C, Rod R, Jaeken J, Berant M, Van Schaftingen E, Fryns J P, Brill-Zamir R, Gershoni-Baruch R, Lischinsky S, Mandel H

机构信息

Department of Pediatrics, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):399-403. doi: 10.1023/a:1005612120886.

DOI:10.1023/a:1005612120886

PMID:10896304

Abstract

摘要

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本文引用的文献

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