Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation

Human mutation

Volumn 17, Issue 2, 2001, Pages 152-153

  Allende, Luis M ^a   García Pérez, Miguel A ^a   Moreno, Angel ^a   Corell, Alfredo ^a   Carasol, Miguel ^a   Martínez Canut, Pedro ^b   Arnaiz Villena, Antonio ^a  

^a UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^b UNIVERSITY OF VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DIPEPTIDYL PEPTIDASE I; DNA;

ALLELE; ARTICLE; CHEMISTRY; ENZYMOLOGY; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETICS; HETEROZYGOTE; HUMAN; KERATOSIS PALMOPLANTARIS; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ALLELES; DIPEPTIDYL PEPTIDASE I; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PAPILLON-LEFEVRE DISEASE;

EID: 0035260448     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#     Document Type: Article

References (0)