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Constantinou C.D., Pack M., Young S.B., Prockop D.J. Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant had the same mutation substituting cysteine for alpha-1-glycine 904 in a type I procollagen gene (COL1A1). - Am.J.Hum.Genet., 1990, v. 47, p. 670-679.

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