Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of osteoclast-poor ARO has been recognized as due to a defect in TNFSF11 (also called R...

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Main Authors: Guerrini, Matteo M., Sobacchi, Cristina, Cassani, Barbara, Abinun, Mario, Kilic, Sara S., Pangrazio, Alessandra, Moratto, Daniele, Mazzolari, Evelina, Clayton-Smith, Jill, Orchard, Paul, Coxon, Fraser P., Helfrich, Miep H., Crockett, Julie C., Mellis, David, Vellodi, Ashok, Tezcan, Ilhan, Notarangelo, Luigi D., Rogers, Michael J., Vezzoni, Paolo, Villa, Anna, Frattini, Annalisa
Format: Artigo
Language:Inglês
Published: Elsevier 2008
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443850/
https://ncbi.nlm.nih.gov/pubmed/18606301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.06.015
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