Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.

Human mutation

Volumn 28, Issue 5, 2007, Pages 524-

  Donnarumma, Michela ^a   Regis, Stefano ^a   Tappino, Barbara ^a   Rosano, Camillo ^a   Assereto, Stefania ^a   Corsolini, Fabio ^a   Di Rocco, Maja ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN; CATHEPSIN K;

ARTICLE; DYSOSTOSIS; EXON; GENETIC POLYMORPHISM; GENETICS; HUMAN; MUTATION; POLYMERASE CHAIN REACTION;

CATHEPSINS; DYSOSTOSES; EXONS; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 34250642771     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9490     Document Type: Article

References (0)