Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. [electronic resource]
- Human mutation Mar 2012
- 485-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22019 doi
Child Child, Preschool Congenital Disorders of Glycosylation--enzymology Dolichols--chemistry Female Glycosylation Humans Male Mannosyltransferases--genetics Oligosaccharides--chemistry