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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Bibliografische gegevens
Gepubliceerd in:Sci Rep
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2017
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Article
Online toegang: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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