Associated Papers
Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.
Hirata E et al.
The Journal of Biological Chemistry, 2024
Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.
Hirata E et al.
Biorxiv : the Preprint Server for Biology, 2024
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.
Quelhas D et al.
Jimd Reports, 2019
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F et al.
Annals of Human Genetics, 2018
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