dentification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
Aftab, S.A.S., Reddy, N., Owen, N.L., Pollitt, R., Harte, A., McTernan, P.G., Tripathi, G. and Barber, T.M. 2013. dentification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. Endocrinology, Diabetes & Metabolism Case Reports. 7 (2013), p. EDM130002 EDM130002. https://doi.org/10.1530/EDM-13-0002