2026-06-29T01:19:06Zhttps://docta.ucm.es/rest/oai/request

oai:docta.ucm.es:20.500.14352/981192024-02-15T01:17:09Zcom_20.500.14352_14col_20.500.14352_15

A genetic study of cathepsin C gene in two families with Papillon–Lefèvre syndrome Moreno, Ángel Allende Martínez, Luis Miguel Unamuno, Pablo 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). 2024-02-02T09:24:17Z 2024-02-02T09:24:17Z 2024-02-02T09:24:17Z 2003-06-01 journal article https://hdl.handle.net/20.500.14352/98119 1096-7192 10.1016/s1096-7192(03)00070-2 eng Allende LM, Moreno A, de Unamuno P. A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome. Mol Genet Metab. 2003 Jun;79(2):146-8. doi: 10.1016/s1096-7192(03)00070-2. PMID: 12809647. restricted access Elsevier