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Risto P.K. Penttinen, Jack Ruben Lichtenstein, George R. Martin, Victor Almon McKusick;
Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.
Proc. Natl. Acad. Sci. U.S.A. 72:586-589(1975)

PubMed=643622; DOI=10.1093/nar/5.3.951; PMCID=PMC342035
Urs Kuhnlein, Betty Lee, Edward E. Penhoet, Stuart M. Linn;
Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA endonuclease species with a low apparent Km.
Nucleic Acids Res. 5:951-960(1978)

PubMed=6191221; DOI=10.1038/304078a0
Mon-Li Chu, Charlene J. Williams, Gugliemina Pepe, Jeffrey L. Hirsch, Darwin Johnson Prockop, Francesco Ramirez;
Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.
Nature 304:78-80(1983)

PubMed=6221880; DOI=10.3109/03008208309015011
Judith Fraser, Gerald A. Lancaster, Charles Robert Scriver;
Secreted collagen ratios in normal human and osteogenesis imperfecta skin fibroblasts.
Connect. Tissue Res. 11:57-67(1983)

PubMed=2981843; DOI=10.1016/S0021-9258(20)71150-6
Mon-Li Chu, Victoria Gargiulo, Charlene J. Williams, Francesco Ramirez;
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
J. Biol. Chem. 260:691-694(1985)