Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Nature Genetics

Volumn 23, Issue 4, 1999, Pages 421-424

  Toomes, Carmel ^a,b   James, Jacqueline ^b   Wood, A Joseph ^a   Wu, Chu Lee ^a   McCormick, Derek ^c   Lench, Nicholas ^d   Hewitt, Chelsee ^a   Moynihan, Leanne ^d   Roberts, Emma ^d   Woods, C Geoffrey ^d   Markham, Alexander ^d   Wong, Melanie ^e   Widmer, Richard ^e   Ghaffar, Khaled Abdul ^f   Pemberton, Michael ^b   Hussein, Ibtessam Ramzy ^g   Temtamy, Samia A ^g   Davies, Robin ^h   Read, Andrew P ^a   Sloan, Philip ^b   Dixon, Michael J ^b   Thakker, Nalin S ^a,b   more..

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e WESTMEAD HOSPITAL   (Australia)

^f AIN SHAMS UNIVERSITY   (Egypt)

^g NATIONAL RESEARCH CENTRE   (Egypt)

^h Dental Health Unit   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 11Q; CONTROLLED STUDY; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN CELL; KERATOSIS PALMOPLANTARIS; MAJOR CLINICAL STUDY; PERIODONTAL DISEASE; PRIORITY JOURNAL;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 11; DIPEPTIDYL PEPTIDASE I; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; PAPILLON-LEFEVRE DISEASE; PEDIGREE; PERIODONTITIS, JUVENILE; POINT MUTATION;

EID: 0032709548     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/70525     Document Type: Article

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