Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

BACKGROUND: Papillon-Lefèvre Syndrome (PLS) is a type IV genodermatosis caused by mutations in cathepsin C (CTSC), with a worldwide prevalence of 1–4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis of t...

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主要な著者: Romero-Quintana, José G, Frías-Castro, Luis O, Arámbula-Meraz, Eliakym, Aguilar-Medina, Maribel, Dueñas-Arias, Jesús E, Melchor-Soto, Jesús D, Romero-Navarro, José G, Ramos-Payán, Rosalío
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2013
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3563609/
https://ncbi.nlm.nih.gov/pubmed/23311634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-7
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