Early Diagnosis ofABCB11Spectrum Liver Disorders by Next Generation Sequencing
نویسندگان
چکیده
منابع مشابه
Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing
PURPOSE The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic disease...
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ژورنال
عنوان ژورنال: Pediatric Gastroenterology, Hepatology & Nutrition
سال: 2017
ISSN: 2234-8646,2234-8840
DOI: 10.5223/pghn.2017.20.2.114