Associated Papers
Expanding the molecular and clinical phenotypes of FUT8-CDG.
Ng BG et al.
Journal of Inherited Metabolic Disease, 2020
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Ng BG et al.
American Journal of Human Genetics, 2018
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