✦ LIBER ✦

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2

✍ Scribed by Eissa Faqeih; Peter Roughley; Francis H. Glorieux; Frank Rauch

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 174 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32653

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation producing alternative splicing

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability

✍ Zolezzi, F.; Valli, M.; Clementi, M.; Mammi, I.; Cetta, G.; Pignatti, P. F.; Mot 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

## We have characterized a familial form of osteogenesis imperfecta (OI) . Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiolo

Three novel type I collagen mutations in

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen

✍ Adriana P. Sarafova; Hyeon Choi; Antonella Forlino; Anna Gajko; Wayne A. Cabral; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB

In three cases of type IV osteogenesis imperfecta (OI), we identified unique point mutations in type I collagen alpha1(I) cDNA. In two cases, the appearance of dimers indicated the presence of cysteine substitutions in the alpha1(I) protein chain. Cyanogen bromide digestion localized these cross-lin