PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Por Kämpe, A. J., Costantini, A., Mäkitie, R. E., Jäntti, N., Valta, H., Mäyränpää, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H., Mäkitie, O.
Publicado no Osteoporos Int (2017)

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

Por Laine, C M, Chung, B D, Susic, M, Prescott, T, Semler, O, Fiskerstrand, T, D'Eufemia, P, Castori, M, Pekkinen, M, Sochett, E, Cole, W G, Netzer, C, Mäkitie, O
Publicado em 2011