Del Fattore, A <br/><br/>
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.  [electronic resource] 

 -  Journal of medical genetics  Apr 2006 
 - 315-25 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2005.036673  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Alkaline Phosphatase--blood<br/>Bone Resorption--metabolism<br/>Child<br/>Child, Preschool<br/>Chloride Channels--chemistry<br/>Female<br/>Genotype<br/>Humans<br/>Hydrogen-Ion Concentration<br/>Male<br/>Osteocalcin--blood<br/>Osteoclasts--pathology<br/>Osteopetrosis--diagnosis<br/>Phosphoric Monoester Hydrolases--blood<br/>Sodium-Hydrogen Exchangers--physiology<br/>Vacuolar Proton-Translocating ATPases--genetics