A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.

Source:http://linkedlifedata.com/resource/pubmed/id/3667599

J. Biol. Chem. 1987 Oct 25 262 30 14737-44

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PMID
3667599