Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marika Löija"'
Autor:
Outi Mäkitie, Minna Männikkö, Jihan Xia, Alice Costantini, Sini Skarp, Gong-Hong Wei, Qin Zhang, Lloyd W. Ruddock, Marika Löija
Publikováno v:
Journal of Bone and Mineral Research
We studied a family with severe primary osteoporosis carrying a heterozygous p.Arg8Phefs*14 deletion in COL1A2, leading to haploinsufficiency. Three affected individuals carried the mutation and presented nearly identical spinal fractures but lacked
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa25b0537d11da4124e41cd4ba242c7
https://doi.org/10.1002/jbmr.4145
https://doi.org/10.1002/jbmr.4145
Autor:
Gong-Hong Wei, Outi Mäkitie, Jihan Xia, Alice Costantini, Lloyd W. Ruddock, Marika Löija, Minna Männikkö, Sini Skarp, Qin Zhang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f284a31de292b78bf118264ccec7b0c
https://doi.org/10.1002/jbmr.4145/v2/response1
https://doi.org/10.1002/jbmr.4145/v2/response1
Autor:
Marika Löija, Leena Ala-Kokko, Etienne Sochett, Minna Männikkö, Outi Mäkitie, Stefano Mora, William G. Cole, Dirk Schnabel, Johanna Korvala, Harald Jüppner
Publikováno v:
European Journal of Medical Genetics. 55:515-519
Childhood-onset primary osteoporosis is manifested as reduced bone mineral density, peripheral fractures and/or vertebral compression fractures. Until now, only mutations in LRP5 have been shown to cause the disorder. Candidate gene analyses were per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7b1432d2e164b4fb3aa775b3b6f507
https://doi.org/10.1016/j.ejmg.2012.06.011
https://doi.org/10.1016/j.ejmg.2012.06.011