Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Nature Genetics

Volumn 39, Issue 8, 2007, Pages 960-962

  Sobacchi, Cristina ^a,b   Frattini, Annalisa ^a   Guerrini, Matteo M ^a,b   Abinun, Mario ^c,k   Pangrazio, Alessandra ^a   Susani, Lucia ^a   Bredius, Robbert ^d   Mancini, Grazia ^e   Cant, Andrew ^c,k   Bishop, Nick ^f   Grabowski, Peter ^f   Del Fattore, Andrea ^g   Messina, Chiara ^h   Errigo, Gabriella ^h   Coxon, Fraser P ⁱ   Scott, Debbie I ⁱ   Teti, Anna ^g   Rogers, Michael J ⁱ   Vezzoni, Paolo ^a   Villa, Anna ^a,j   Helfrich, Miep H ⁱ   more..

^a CNR   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF SHEFFIELD   (United Kingdom)

^g UNIVERSITY OF L'AQUILA   (Italy)

^h UNIVERSITY OF PADOVA   (Italy)

ⁱ UNIVERSITY OF ABERDEEN   (United Kingdom)

^j VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^k NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

OSTEOCLAST DIFFERENTIATION FACTOR;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE BIOPSY; CELL COUNT; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNOLOGICAL PARAMETERS; MONOCYTE; OSTEOCLAST; PRIORITY JOURNAL;

ANIMALS; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICE; OSTEOCLASTS; OSTEOPETROSIS; PEDIGREE; RANK LIGAND;

EID: 34547521058     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng2076     Document Type: Article

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