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Prenatal diagnosis of osteogenesis imperfecta type II by real-time ultrasound

✍ Scribed by J. D. Stephens; R. A. Filly; P. W. Callen; M. S. Golbus


Publisher
Springer
Year
1983
Tongue
English
Weight
254 KB
Volume
64
Category
Article
ISSN
0340-6717

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Prenatal diagnosis of osteogenesis imper
✍ Lieve Nuytinck; Bekir Sitki Sayli; Wettinck Karen; Anne De Paepe πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 118 KB πŸ‘ 1 views

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