Khan, Bushra <br/><br/>
A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.  [electronic resource] 

 -  Journal of investigative medicine : the official publication of the American Federation for Clinical Research  Jun 2010 
 - 720-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1708-8267 
<br/><br/><label>Standard No.: </label>10.231/JIM.0b013e3181da50bd  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Animals<br/>Cathepsin K--chemistry<br/>Cattle<br/>Chromosome Disorders<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Dogs<br/>Family Health<br/>Female<br/>Genes, Recessive--genetics<br/>Genetic Linkage<br/>Genotype<br/>Humans<br/>Male<br/>Mice<br/>Microsatellite Repeats--genetics<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Osteopetrosis--blood<br/>Pakistan<br/>Pan troglodytes<br/>Rats<br/>Sequence Alignment<br/>Zebrafish