title: Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
authors.affiliation: Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: G
authors.initials: G
authors.lastname: Tromp
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: L
authors.initials: L
authors.lastname: Nuytinck
authors.forename: S
authors.initials: S
authors.lastname: Madhatheri
authors.forename: H
authors.initials: H
authors.lastname: Kuivaniemi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003062:Codon; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011347:Procollagen / Q000145:classification / Q000235:genetics*; D014633:Valine
chemical_list: D003062:Codon; D018076:DNA, Complementary; D011347:Procollagen; D014633:Valine; D005998:Glycine