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