CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update
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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSCPapillon-Lefevre Syndrome In An Adolescent Female: A Case StudyCommon dermatologic manifestations of primary immune deficiencies.Epithelial desquamation observed in a Phase I study of an oral cathepsin C inhibitor (GSK2793660).Inherited diseases caused by mutations in cathepsin protease genes.Salivary Tick Cystatin OmC2 Targets Lysosomal Cathepsins S and C in Human Dendritic Cells.Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitisAnalysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome
P2860
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P2860
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
CTSC and Papillon-Lefèvre synd ...... d variants and database update
@ast
CTSC and Papillon-Lefèvre synd ...... d variants and database update
@en
type
label
CTSC and Papillon-Lefèvre synd ...... d variants and database update
@ast
CTSC and Papillon-Lefèvre synd ...... d variants and database update
@en
prefLabel
CTSC and Papillon-Lefèvre synd ...... d variants and database update
@ast
CTSC and Papillon-Lefèvre synd ...... d variants and database update
@en
P2093
P2860
P356
P1476
CTSC and Papillon-Lefèvre synd ...... d variants and database update
@en
P2093
Adrienn Sulák
Beáta Fábos
Ekaterine Paschali
Ferenc Papp
Katalin Farkas
Katalin Nagy
Kornélia Tripolszki
Márta Széll
Nikoletta Nagy
P2860
P304
P356
10.1002/MGG3.61
P50
P577
2014-02-11T00:00:00Z