Osteopetrosis--more than only a disease of the bone.
Fasth
Anders
A
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden. anders.fasth@gu.se
D000361:Agammaglobulinemia / Q000235:genetics / Q000401:mortality / Q000628:therapy; D018118:Chloride Channels / Q000235:genetics; D018572:Disease-Free Survival; D005260:Female; D005500:Follow-Up Studies; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics / Q000401:mortality / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010022:Osteopetrosis / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D053246:Receptor Activator of Nuclear Factor-kappa B / Q000235:genetics; D012189:Retrospective Studies; D015996:Survival Rate; D014184:Transplantation, Homologous; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics
C097540:CLCN7 protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; C489946:OSTM1 protein, human; D053246:Receptor Activator of Nuclear Factor-kappa B; C472421:TCIRG1 protein, human; C505686:TNFRSF11A protein, human; D044767:Ubiquitin-Protein Ligases; D025262:Vacuolar Proton-Translocating ATPases