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Original article
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort
Mutaciones en heterocigosis en ATP8B1, ACB11 y ABCB4 como causa de formas leves de Colestasis Intrahepática Progresiva Familiar en una cohorte pediátrica
Beatriz Mínguez Rodrígueza,
, Cristina Molera Busomsa, Loreto Martorell Sampolb, Ruth García Romeroc, Gemma Colomé Riverod, Javier Martín de Carpia
Corresponding author
a Department of Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, Barcelona, Spain
b Department of Genetics, Sant Joan de Déu Hospitat, Barcelona, Spain
c Unit of Paediatric Gastroenterology, Hepatology and Nutrition, Miguel Servet Hospital, Zaragoza, Spain
d Department of Paediatric Gastroenterology, Nens Hospital of Barcelona, Barcelona, Spain