title: Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
authors.affiliation: Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107.
authors.forename: S L
authors.initials: SL
authors.lastname: Madhatheri
authors.forename: G
authors.initials: G
authors.lastname: Tromp
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: H
authors.initials: H
authors.lastname: Kuivaniemi
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005971:Glutamates / Q000378:metabolism*; D018698:Glutamic Acid; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011347:Procollagen / Q000737:chemistry / Q000235:genetics*
chemical_list: D005971:Glutamates; D011347:Procollagen; D018698:Glutamic Acid; D005998:Glycine