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. 1985;70(1):35-7.
doi: 10.1007/BF00389455.

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation

B C Sykes, D J Ogilvie, B P Wordsworth

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation

B C Sykes et al. Hum Genet. 1985.

Abstract

A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorphism just beyond the 3'-end of the gene. We suggest that this polymorphism provides an alternative explanation of the original results.

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References

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