Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
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Author / Creator
Sobacchi, Cristina , Frattini, Annalisa , Guerrini, Matteo M , Abinun, Mario , Pangrazio, Alessandra , Susani, Lucia , Bredius, Robbert , Mancini, Grazia , Cant, Andrew , Bishop, Nick , Grabowski, Peter , Del Fattore, Andrea , Messina, Chiara , Errigo, Gabriella , Coxon, Fraser P , Scott, Debbie I , Teti, Anna , Rogers, Michael J , Vezzoni, Paolo , Villa, Anna and Helfrich, Miep H
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor–KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not...
Alternative Titles
Full title
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
Authors, Artists and Contributors
Author / Creator
Frattini, Annalisa
Guerrini, Matteo M
Abinun, Mario
Pangrazio, Alessandra
Susani, Lucia
Bredius, Robbert
Mancini, Grazia
Cant, Andrew
Bishop, Nick
Grabowski, Peter
Del Fattore, Andrea
Messina, Chiara
Errigo, Gabriella
Coxon, Fraser P
Scott, Debbie I
Teti, Anna
Rogers, Michael J
Vezzoni, Paolo
Villa, Anna
Helfrich, Miep H
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_759317488
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_759317488
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng2076
