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...

Descrizione completa

Salvato in:
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
Soggetti:
Article
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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi