Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Papillon–Lefevre syndrome (PALS) is a rare, autosomal recessive disorder characterized by periodontitis and hyperkeratosis over the palms and soles. Mutations in the cathepsin C gene (CTSC) have been recognized as the cause of PALS since the late 1990s. More than 75 mutations in CTSC have been ident...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Saudi J Biol Sci
Egile Nagusiak: Alkhiary, Yaser Mohammad, Jelani, Musharraf, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Al-Zahrani, Hams Saeed, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2016
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4992098/
https://ncbi.nlm.nih.gov/pubmed/27579005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.sjbs.2015.06.007
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak