Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 1, 2000, Pages 425-431

  Fujita, Yoshi ^a   Nakata, Ken ^a   Yasui, Natsuo ^a   Matsui, Yoshito ^b   Kataoka, Eiichiro ^a   Hiroshima, Kazuo ^c   Shiba, Ryo Ichi ^d   Ochi, Takahiro ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c OSAKA NATIONAL HOSPITAL   (Japan)

^d Hyogo Nojigiku Hosp Disabled C   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN K; COMPLEMENTARY DNA; GENE PRODUCT; MUTANT PROTEIN; SIGNAL PEPTIDE;

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; DELETION MUTANT; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYKNODYSOSTOSIS; STOP CODON; WESTERN BLOTTING;

CYTOMEGALOVIRUS;

EID: 0034455459     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.85.1.6247     Document Type: Article

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