Show
Sort by
-
- Journal Article
- A1
- open access
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
-
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
-
- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
-
Total absence of the alpha 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
-
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations
-
Osteogenesis imperfects phenotypes resulting from serine for glycine substitutions in the α2(I) collagen chain
-
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II
-
Substitution of glycine-661 by serine in the α1(I) and α2(I) chains of type I collagen results in different clinical and biochemical phenotypes
-
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical glycine 502 serine substitutions in the α2 chain of type I collagen
-
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV