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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Sci Rep
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group UK 2017
विषय:
Article
ऑनलाइन पहुंच: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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