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...

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Gepubliceerd in:Hepatology
Hoofdauteurs: Vilarinho, Sílvia, Sari, Sinan, Yilmaz, Güldal, Stiegler, Amy L., Boggon, Titus J., Jain, Dhanpat, Akyol, Gulen, Dalgic, Buket, Günel, Murat, Lifton, Richard P.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
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Article
Online toegang: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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