Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.

Journal of dermatological science - 1 Dec 2014

Li Zhiming, Liu Jingjing, Fang Shan, Zhu Haigang, Zhang Xueqi, Cai Jianfeng, Li Bingxu, Xu Yunsheng

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Heterozygote
Share to Immunoglobulin E
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to T-Lymphocyte Subsets

Share to Young Adult

Source

Identifiers

PMID: 25450092
DOI: 10.1016/j.jdermsci.2014.09.009

Genes

CTSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.PMID 25450092Read ↗

<i><scp>CTSC</scp></i> and Papillon–Lefèvre syndrome: detection of recurrent mutations in <scp>H</scp>ungarian patients, a review of published variants and database updateSemantic proximity Read ↗

A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.Semantic proximity Read ↗

Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C GeneSemantic proximity Read ↗

[Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].Semantic proximity Read ↗

Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: implications for understanding the genotype/phenotype relationship.Semantic proximity Read ↗

[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].Semantic proximity Read ↗

One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.Semantic proximity Read ↗

A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

Cathepsin-C (CTSC) Gene Mutations in Papillon-Lefevre Syndrome in India.Semantic proximity Read ↗

Manifestation of heterozygosity in Papillon-Lefèvre syndrome?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.