Clinical vignette: Severe malignant osteopetrosis caused by a GL gene mutation

Journal of Bone and Mineral Research

Volumn 19, Issue 7, 2004, Pages 1194-1199

  Quarello, Paola ^a   Forni, Marco ^b   Barberis, Laura ^a   Defilippi, Claudio ^b   Campagnoli, M Francesca ^a   Silvestro, Leandra ^a   Frattini, Annalisa ^c   Chalhoub, Nader ^d   Vacher, Jean ^d   Ramenghi, Ugo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c CNR   (Italy)

^d CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

Author keywords

Grey lethal gene; Malignant osteopetrosis; Osteoclast

Indexed keywords

GREY LETHAL PROTEIN; PROTEIN; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; OSTM1 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ALBERS SCHOENBERG DISEASE; ARTICLE; BONE DENSITY; BONE EXAMINATION; BONE RADIOGRAPHY; BONE STRUCTURE; CASE REPORT; CELL COUNT; CLINICAL FEATURE; CYTOPENIA; DISEASE COURSE; DISEASE SEVERITY; GENE MUTATION; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIVER FAILURE; MALE; NEWBORN; OSTEOCLAST; OSTEOLYSIS; PHENOTYPE; TISSUE DIFFERENTIATION; BONE; BRAIN; GENETICS; LIVER; PATHOLOGY; POINT MUTATION; RADIOGRAPHY;

BONE AND BONES; BRAIN; HUMANS; INFANT, NEWBORN; LIVER; MALE; MEMBRANE PROTEINS; OSTEOPETROSIS; POINT MUTATION; UBIQUITIN-PROTEIN LIGASES;

EID: 16544384350     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/JBMR.040407     Document Type: Article

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