SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
Abstract 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...
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Autores principales: | Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G. Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H. Helfrich, Fraser P. Coxon, Niklas Dahl, Johan Wikström, Ulf H. Lerner |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2017
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Materias: | |
Acceso en línea: | https://doaj.org/article/2ead0ecdd282451bb5f766d6ae982d05 |
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