Linked Life Data

12809647

Source:http://linkedlifedata.com/resource/pubmed/id/12809647

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-6-17
pubmed:abstractText
Papillon-Lefèvre syndrome (PLS) is an inherited human disorder characterised by premature destruction of the periodontium of the deciduous and permanent teeth, palmoplantar hyperkeratosis, and increased susceptibility to bacterial infections during the first years of life. In this paper two PLS families have been studied. Family 1 presents a novel homozygous mutation (880T>C) in exon 6 causing Y294H amino acid substitution. Family 2 shows a previously described non-sense homozygous punctual change (72C>A) that introduces a termination codon at the extracellular domain of the protein (C24X).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1096-7192
pubmed:author
pubmed:issnType
Print
pubmed:volume
79
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
146-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.
pubmed:affiliation
Department of Immunology, Hospital 12 de Octubre, Ctra. Andalucia, Madrid 28041, Spain. imallende@yahoo.com
pubmed:publicationType
Journal Article