Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.

Human mutation

Volumn 23, Issue 5, 2004, Pages 524-

  de Haar, Susanne F ^a   Jansen, D C ^a   Schoenmaker, Ton ^a   De Vree, Hilde ^a   Everts, Vincent ^a   Beertsen, Wouter ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN; CATHEPSIN G; DIPEPTIDYL PEPTIDASE I; MYELOBLASTIN; PANCREATIC ELASTASE; SERINE PROTEINASE;

AMINO ACID SEQUENCE; ARTICLE; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; KERATOSIS PALMOPLANTARIS; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; CATHEPSINS; DIPEPTIDYL PEPTIDASE I; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYELOBLASTIN; NEUTROPHILS; PANCREATIC ELASTASE; PAPILLON-LEFEVRE DISEASE; PEDIGREE; SEQUENCE ALIGNMENT; SERINE ENDOPEPTIDASES;

MLCS; MLOWN;

EID: 4444343709     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9243     Document Type: Article

References (0)