Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene manifesting clinically as osteogenesis imperfecta
Owen, N., Reddy, N., Aftab, S.A.S., Harte, A.L., McTernan, P.G., Tripathi, G. and Barber, T.M. 2013. Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene manifesting clinically as osteogenesis imperfecta. Society for Endocrinology BES 2013. Harrogate, UK 18 - 21 Mar 2013 BioScientifica Ltd.. https://doi.org/10.1530/endoabs.31.P13