A novel mutation of the cathepsin C gene in a Thai family with Papillon-Lefèvre syndrome

Journal of Periodontology

Volumn 76, Issue 3, 2005, Pages 492-496

  Nitta, Hiroshi ^a   Wara Aswapati, Nawarat ^b   Lertsirivorakul, Jinda ^b   Nakamura, Tsutomu ^a   Yamamoto, Matsuo ^c   Izumi, Yuichi ^d   Nakamura, Toshiaki ^d   Ishikawa, Isao ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b KHON KAEN UNIVERSITY   (Thailand)

^c KAGOSHIMA UNIVERSITY   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Enzyme activation; Genes, cathepsin C; Mutation; Papillon Lef vre syndrome; Thai

Indexed keywords

AMINO ACID; COUMARIN DERIVATIVE; CYSTEINE; DIPEPTIDYL PEPTIDASE I; GENOMIC DNA; RESTRICTION ENDONUCLEASE;

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; DECIDUOUS TOOTH; DISEASE SEVERITY; DNA ISOLATION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KERATOSIS PALMOPLANTARIS; MALE; MUTATIONAL ANALYSIS; PATHOGENESIS; PERIODONTAL DISEASE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON; THAILAND; TOOTH EXTRACTION;

ADENINE; CHILD, PRESCHOOL; CODON, NONSENSE; CYSTEINE; CYTOSINE; DIPEPTIDYL PEPTIDASE I; EXONS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PAPILLON-LEFEVRE DISEASE; PERIODONTAL DISEASES; THAILAND;

EID: 18744404237     PISSN: 00223492     EISSN: None     Source Type: Journal    
DOI: 10.1902/jop.2005.76.3.492     Document Type: Article

References (10)

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