Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation
- 1 May 1985
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 70 (1), 35-37
- https://doi.org/10.1007/bf00389455
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.This publication has 7 references indexed in Scilit:
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