Jaeken, Jaak
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation. [electronic resource]
- European journal of human genetics : EJHG 02 2017
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2016.151 doi
Galactosemias--diagnosis
Galactosyltransferases--genetics
Genetic Testing--methods
Humans
Mutation