Associated Papers
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
Colman M et al.
Human Mutation, 2021
Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review.
Gong Z et al.
Clinical and Experimental Dermatology, 2021
Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.
Wang C et al.
Aging, 2021
33428592 (PubMed )
Supplement: aging-13-202370-s002.xlsx › neoantigen_NvsE
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
Symoens S et al.
Human Mutation, 2012
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