Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.
Jaeken, Jaak
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. [electronic resource] - European journal of human genetics : EJHG 11 2019 - 1757-1760 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/s41431-019-0453-y doi
Congenital Disorders of Glycosylation--diagnosis
Genetic Predisposition to Disease--genetics
Genotype
Humans
Mutation
Phosphoglucomutase--genetics
Risk Assessment
Sensitivity and Specificity
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. [electronic resource] - European journal of human genetics : EJHG 11 2019 - 1757-1760 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/s41431-019-0453-y doi
Congenital Disorders of Glycosylation--diagnosis
Genetic Predisposition to Disease--genetics
Genotype
Humans
Mutation
Phosphoglucomutase--genetics
Risk Assessment
Sensitivity and Specificity