Shujiro Hayashi Tomomi Yamaguchi Tomoki Kosho Ken Igawa
10.3389/fgene.2022.1017446
Front Genet
2022 Nov 18;13:1017446.
col3a1 vascular ehlers–danlos syndrome endoplasmic reticulum stress in-frame mutation triplet repeat sequence unfolded protein response
CC BY
https://pubmed.ncbi.nlm.nih.gov/36468001/
Case Reports
PMC9716096
36468001
Case report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence
2022