Article
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I.
Matrix biology : journal of the International Society for Matrix Biology - 1 Jan 1998
Nuytinck L, Coppin C, De Paepe A
Abstract excerpt
In patients with osteogenesis imperfecta (OI) type I, a decrease in synthesis of type I collagen is usually observed as a result of a COL1A1 null allele. Testing for COL1A1 null alleles can be done using polymorphic markers in the coding region of the COL1A1 gene. Until now, only one marker for polymorphism in the 3' untranslated region (3' UTR) of the COL1A1 gene has been available. We have identified a 4 bp...
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