title: A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.
authors.affiliation: Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Bushra
authors.initials: B
authors.lastname: Khan
authors.forename: Zahoor
authors.initials: Z
authors.lastname: Ahmed
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D056657:Cathepsin K / Q000737:chemistry / Q000235:genetics*; D002417:Cattle; D025063:Chromosome Disorders; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004285:Dogs; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D051379:Mice; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010022:Osteopetrosis / Q000097:blood / Q000235:genetics* / Q000473:pathology; D010154:Pakistan; D002679:Pan troglodytes; D051381:Rats; D016415:Sequence Alignment; D015027:Zebrafish
chemical_list: C534130:CTSK protein, human; D056657:Cathepsin K