Mutation analysis of cathepsin C gene in a Chinese patient with pre-pubertal periodontitis

Chinese Medical Journal

Volumn 118, Issue 13, 2005, Pages 1109-1112

  Yang, Yuan ^a   Bai, Xiao Wen ^b   Song, Shu Juan ^b   Ge, Li Hong ^a   Cao, Cai Fang ^a  

^a PEKING UNIVERSITY SCHOOL AND HOSPITAL OF STOMATOLOGY   (China)

^b PEKING UNIVERSITY   (China)

Author keywords

Cathepsin C; Gene mutation; Papillon Lef vre syndrome; Pre pubertal periodontitis

Indexed keywords

ARGININE; CYSTEINE; DIPEPTIDYL PEPTIDASE I; GENOMIC DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHINESE; EDEMA; EXON; GENETIC ANALYSIS; GINGIVA BLEEDING; GINGIVA DISEASE; HUMAN; HUMAN CELL; LABORATORY TEST; MALE; MISSENSE MUTATION; MOUTH EXAMINATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERIODONTAL DISEASE; PERIODONTITIS; POLYMERASE CHAIN REACTION; PREPUBERTY; SCHOOL CHILD; SEQUENCE ANALYSIS; TOOTH ERUPTION; TOOTH RADIOGRAPHY;

CHILD; DIPEPTIDYL PEPTIDASE I; HUMANS; MALE; MUTATION; PERIODONTITIS, JUVENILE; POLYMERASE CHAIN REACTION;

EID: 21844445808     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Hart TC, Hart PS, Bowden DW, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J Med Genet 1999;36:881-887.
2. Toomes C, James J, Wood AJ, et al. Loss-of function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23:421-424.
3. Hart TC, Hart PS, Michalec MD, et al. Localisation of a gene for prepuberty periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J Med Genet 2000;37:95-101.
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