Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension

Despite advances in the diagnosis and management of idiopathic non-cirrhotic portal hypertension (INCPH), its pathogenesis remains elusive. Insight may be gained from study of early onset familial INCPH, in which Mendelian mutations may account for disease. We performed exome sequencing of 8 subject...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hepatology
Asıl Yazarlar: Vilarinho, Sílvia, Sari, Sinan, Yilmaz, Güldal, Stiegler, Amy L., Boggon, Titus J., Jain, Dhanpat, Akyol, Gulen, Dalgic, Buket, Günel, Murat, Lifton, Richard P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4874872/
https://ncbi.nlm.nih.gov/pubmed/26874653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.28499
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller