A young girl presented with severe type 111 osteogenesis imperfecta; her otherwise healthy mother also had a mild connective tissue disorder with blue sclerae and recurrent joint dislocations. Skin fibroblast cultures from the child produced both normal and post-translationally overmodified type I c
Two novelCOL1A1mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix
✍ Scribed by Joanna Witecka; Aleksandra M. Auguściak-Duma; Anna Kruczek; Anna Szydło; Marta Lesiak; Maria Krzak; Jacek J. Pietrzyk; Minna Männikkö; Aleksander L. Sieroń
- Book ID
- 105733046
- Publisher
- Springer-Verlag
- Year
- 2008
- Tongue
- English
- Weight
- 1002 KB
- Volume
- 49
- Category
- Article
- ISSN
- 1234-1983
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📜 SIMILAR VOLUMES
To determine if some individuals with deforming varieties of osteogenesis imperfecta (OI) carry point mutations in the COL1A2 gene of type-I collagen, we examined collagens synthesized by cell strains from affected individuals for the presence of cysteine in the triple helical domain of the alpha 2
## Clinical Data on Patients KO was 35 years of age at the time her cell strain was sent to us. She was born to healthy unrelated parents and has two healthy siblings, both of whom have unaffected children, and no other individuals with 0 1 were identified in the family. She had many fractures at