Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

Source:http://linkedlifedata.com/resource/pubmed/id/3372533

J. Biol. Chem. 1988 Jun 15 263 17 8398-404

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PMID
3372533