Associated Papers
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient.
Zhang XY et al.
Human Mutation, 2024
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.
Zhao P et al.
Molecular Genetics & Genomic Medicine, 2021
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A et al.
Human Molecular Genetics, 2018
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S et al.
American Journal of Medical Genetics. Part A, 2017
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