Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein

Journal of Bone and Mineral Research

Volumn 14, Issue 10, 1999, Pages 1649-1653

  Ho, Nicola ^a   Punturieri, Antonello ^b   Wilkin, Douglas ^a   Szabo, Jinny ^a   Johnson, Maureen ^c   Whaley, Justine ^d   Davis, Joie ^a   Clark, Alison ^a   Weiss, Stephen ^b   Francomano, Clair ^a,e  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF MICHIGAN COMPREHENSIVE CANCER CENTER   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d Proteomix Inc   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CATHEPSIN K; COMPLEMENTARY DNA; GLUTAMINE; GLYCINE; LYSINE; NUCLEOTIDE; THREONINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE REMODELING; CASE REPORT; CHILD; CHONDRODYSPLASIA; DYSOSTOSIS; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; OSTEOLYSIS; PROTEIN EXPRESSION; STOP CODON;

CATHEPSINS; CHILD; DNA MUTATIONAL ANALYSIS; DYSOSTOSES; HUMANS; MALE; MICROGNATHISM; MUTATION; MUTATION, MISSENSE;

EID: 0032880960     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1999.14.10.1649     Document Type: Article

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