title: A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
authors.affiliation: Department of Medicine, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway 08854, USA.
authors.forename: D W
authors.initials: DW
authors.lastname: Anderson
authors.forename: S
authors.initials: S
authors.lastname: Thakker-Varia
authors.forename: G
authors.initials: G
authors.lastname: Tromp
authors.forename: H
authors.initials: H
authors.lastname: Kuivaniemi
authors.forename: C A
authors.initials: CA
authors.lastname: Stolle
mesh_terms: D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006358:Hot Temperature; D006801:Humans; D011347:Procollagen / Q000235:genetics / Q000378:metabolism*; D012694:Serine / Q000235:genetics*
chemical_list: D011347:Procollagen; D012694:Serine; D005998:Glycine