SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of Västerbotten in Northern Sweden. All afflicted...

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Publicado no:Sci Rep
Main Authors: Stattin, Eva-Lena, Henning, Petra, Klar, Joakim, McDermott, Emma, Stecksen-Blicks, Christina, Sandström, Per-Erik, Kellgren, Therese G., Rydén, Patrik, Hallmans, Göran, Lönnerholm, Torsten, Ameur, Adam, Helfrich, Miep H., Coxon, Fraser P., Dahl, Niklas, Wikström, Johan, Lerner, Ulf H.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5462793/
https://ncbi.nlm.nih.gov/pubmed/28592808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02533-2
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