Article
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.
Prenatal diagnosis - 1 Sept 1999
Nuytinck L, Sayli B S, Karen W, De Paepe A
Abstract excerpt
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 and time consuming endeavour. We have developed an alternative approach for confirmation of a suspected diagnosis...
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