✦ LIBER ✦

Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy

✍ Scribed by Liat Ries; Moshe Frydman; Gad Barkai; Boleslaw Goldman; Eitan Friedman

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 131 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/1097-0223(200011)20:11<876::aid-pd936>3.0.co;2-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of osteogenesis imper

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing

✍ Lieve Nuytinck; Bekir Sitki Sayli; Wettinck Karen; Anne De Paepe 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

Osteogenesis imperfecta (OI) type I is caused by a reduction of type I collagen resulting from the presence of a non-functional COL1A1 allele (null-allele). Owing to the lack of mutant mRNA, genomic screening of the COL1A1 and COL1A2 genes is required to identify a causal mutation, which is a costly

Mutations in the COL1A2 gene of type I c

Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta

✍ Wenstrup, Richard J. ;Lever, Laura W. ;Phillips, Charlotte L. ;Quarles, L. Darry 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 412 KB 👁 1 views