Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis

Journal of Clinical Investigation

Volumn 103, Issue 5, 1999, Pages 731-738

  Hou, Wu Shiun ^a   Brömme, Dieter ^a   Zhao, Yingming ^a   Mehler, Ernest ^a   Dushey, Craig ^a   Weinstein, Harel ^a   Miranda, Clara Sa ^b   Fraga, Claudia ^c   Greig, Fenella ^a   Carey, John ^d   Rimoin, David L ^e   Desnick, Robert J ^a   Gelb, Bruce D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c Hospital do Funchal   (Portugal)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN K;

ARTICLE; BONE DYSPLASIA; BONE REMODELING; CLINICAL FEATURE; ENZYME DEFICIENCY; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; OSTEOCLAST; PICHIA PASTORIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING;

EID: 0345580617     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI653     Document Type: Article

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