Associated Papers
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
Tachibana N et al.
Genes, 2022
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
Kousal B et al.
Folia Biologica, 2019
Diseases of glycosylation beyond classical congenital disorders of glycosylation.
Hennet T
Biochimica Et Biophysica Acta, 2012
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Morava E et al.
Brain : a Journal of Neurology, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel V et al.
Cell, 2010
Histone glycosylation.
Lakatos A et al.
Acta Biochimica Et Biophysica Hungarica, 1989
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