Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on out...

অনুযায়ী Schwarze, U, Starman, B J, Byers, P H
প্রকাশিত 1999

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

অনুযায়ী Schwarze, U, Goldstein, J A, Byers, P H
প্রকাশিত 1997

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

অনুযায়ী Schwarze, U, Atkinson, M, Hoffman, G G, Greenspan, D S, Byers, P H
প্রকাশিত 2000

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with f...

অনুযায়ী Pace, J, Chitayat, D, Atkinson, M, Wilcox, W, Schwarze, U, Byers, P
প্রকাশিত 2002

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between sm...

অনুযায়ী Winterpacht, A, Superti-Furga, A, Schwarze, U, Stöss, H, Steinmann, B, Spranger, J, Zabel, B
প্রকাশিত 1996

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

অনুযায়ী Colige, A, Sieron, A L, Li, S W, Schwarze, U, Petty, E, Wertelecki, W, Wilcox, W, Krakow, D, Cohn, D H, Reardon, W, Byers, P H, Lapière, C M, Prockop, D J, Nusgens, B V
প্রকাশিত 1999