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...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: 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
格式: Artigo
語言:Inglês
出版: BioMed Central 2013
主題:
Research Article
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍