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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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Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2017
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Accesso online: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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