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Transferrin protein variant mimicking carbohydrate‐deficient glycoprotein syndrome in trisomy 7 mosaicism
Author(s) -
Knopf C.,
Rod R.,
Jaeken J.,
Berant M.,
Van Schaftingen E.,
Fryns J. P.,
BrillZamir R.,
GershoniBaruch R.,
Lischinsky S.,
Mandel H.
Publication year - 2000
Publication title -
journal of inherited metabolic disease
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005612120886
Subject(s) - center (category theory) , medical genetics , medicine , trisomy , human genetics , medical school , pediatrics , genetics , chemistry , biology , gene , medical education , crystallography