A New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre Syndrome

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Published inJournal of investigational allergology & clinical immunology Vol. 30; no. 2; pp. 151 - 153
Main Authors Moura, A L, Regateiro, F S, Peres Resende, E, Coimbra Silva, H, Gonçalo, M, Todo Bom, A, Faria, E
Format Journal Article
LanguageEnglish
Published Spain 01.01.2020
Subjects
Adult
Cathepsin C - genetics
Codon, Nonsense
Humans
Male
Papillon-Lefevre Disease - genetics
Atypical Papillon-Lefèvre syndrome
CTSC mutation
Papillon-Lefèvre syndrome
Cathepsin C
Immunodeficiency
Online AccessGet full text

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Author Gonçalo, M
Coimbra Silva, H
Todo Bom, A
Moura, A L
Regateiro, F S
Faria, E
Peres Resende, E
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  fullname: Faria, E
  organization: Serviço de Imunoalergologia, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
BackLink https://www.ncbi.nlm.nih.gov/pubmed/31751289$$D View this record in MEDLINE/PubMed
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Keywords Atypical Papillon-Lefèvre syndrome
CTSC mutation
Papillon-Lefèvre syndrome
Cathepsin C
Immunodeficiency
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StartPage 151
SubjectTerms Adult
Cathepsin C - genetics
Codon, Nonsense
Humans
Male
Papillon-Lefevre Disease - genetics
Title A New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre Syndrome
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