Associated Papers
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome.
Lim PJ et al.
Genes, 2019
31288483 (PubMed )
Supplement: genes-10-00517-s001.zip › genes-525104-supplementary.xlsx › Table_S1
Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.
Scietti L et al.
Nature Communications, 2018
30089812 (PubMed )
Supplement: 41467_2018_5631_MOESM1_ESM.pdf
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
Rohrbach M et al.
Orphanet Journal of Rare Diseases, 2011
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