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

Included by

Post-translational modifications of collagen type I in osteogenesis imperfecta: Systematic review and meta-analysis.
Non-Cochrane · other · 2026 · cited as Willing 1988 · Tables 1 and 2 (not in meta-analysis); Supplementary material 2

The review does not say which of its outcomes this study informs.

1 including review in total.