Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

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CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update Inherited diseases caused by mutations in cathepsin protease genes.Palmoplantar keratoderma with dental abnormalities.

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P2860

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

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http://www.wikidata.org/entity/Q57715650

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article

@en

im Oktober 2012 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована у 2012

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name

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

@en

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

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Item

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Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

@en

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

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Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

@en

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

@nl

P1476

Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome

@en

P2093

Aleksej Kansky

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Barbka Repič Lampret

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Maruša Debeljak

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Rok Kosem

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P2860

The AP-2 family of transcription factors

Human dipeptidyl-peptidase I. Gene characterization, localization, and expression

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients

Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene

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

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193-203

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scholarly article

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10.1159/000342509

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P433

http://www.w3.org/2001/XMLSchema#string

P478

225

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Katarina Trebusak Podkrajsek

Tadej Battelino

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2012-10-27T00:00:00Z

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23108224

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Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

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P2860

P2860

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698