Associated Papers
With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen IB et al.
Journal of Community Genetics, 2017
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS et al.
European Journal of Human Genetics : Ejhg, 2009
PPIB mutations cause severe osteogenesis imperfecta.
van Dijk FS et al.
American Journal of Human Genetics, 2009
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