Primary study · included by 1 review
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.
Willing 1988 · Willing M C, Cohn D H, Starman B, et al. · Journal of Biological Chemistry · 1988
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The review does not say which of its outcomes this study informs.
1 including review in total.