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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hepatology
Egile Nagusiak: Vilarinho, Sílvia, Sari, Sinan, Yilmaz, Güldal, Stiegler, Amy L., Boggon, Titus J., Jain, Dhanpat, Akyol, Gulen, Dalgic, Buket, Günel, Murat, Lifton, Richard P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Article
Sarrera elektronikoa: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
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