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
38617304 (PubMed )
Supplement: NIHPP2024.04.03.587922V2-supplement-1.pdf
A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.
Abiramalatha T et al.
European Journal of Medical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.
Quelhas D et al.
Jimd Reports, 2019
RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.
Aeby A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
RFT1-CDG in adult siblings with novel mutations.
Ondruskova N et al.
Molecular Genetics and Metabolism, 2012
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