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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.

Original publication

DOI

10.1007/bf00389455

Type

Journal article

Journal

Human genetics

Publication Date

01/1985

Volume

70

Pages

35 - 37

Keywords

Humans, Osteogenesis Imperfecta, Chromosome Deletion, Collagen, DNA, Risk, Base Composition, Heterozygote, Polymorphism, Genetic, Genes