𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Replacement of bone cells expressing a muated COL1A1 gene in a transgenic mouse for osteogenesis imperfecta

✍ Scribed by R.F. Percira; K.W. Halford; M.D. O'hara; M.D. Pollard; A.V. Laptev; D.J. Prockop

Book ID
117640563
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
91 KB
Volume
16
Category
Article
ISSN
0945-053X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

A dominant mutation in the COL1A1 gene t
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta
✍ Jacky Bonaventure; Lola Cohen-Solal; Catherine Lasselin; Pierre Maroteaux πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 728 KB

Type I collagen chains of a proband from a family with recurrent lethal osteogenesis imperfecta (OI) migrated as a doublet when submitted to gel electrophoresis. Cyanogen bromide (CNBr) peptide mapping demonstrated that the post-translational over-modifications were initiated in alpha 1ICB7. Chemica

Four new cases of lethal osteogenesis im
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes
✍ Monica Mottes; Macarena Gomez Lira; Francesca Zolezzi; Maurizia Valli; Veronica πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 34 KB πŸ‘ 2 views

Perinatal lethal osteogenesis imperfecta (OMIM# 166210) is the result of heterozygous mutations of the COL1A1 and COL1A2 genes. Here we describe the molecular defects responsible for four cases of lethal OI. Two glycine substitutions within the COL1A1 gene (G478S, G994D) and two glycine substitution