A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.
Lund
Am
A
Joensen
F
F
Christensen
E
E
Dunø
M
M
Skovby
F
F
Schwartz
M
M
D002675:Child, Preschool; D024042:Collagen Type I / Q000737:chemistry / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005190:Family; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D017433:Protein Structure, Secondary
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain