Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome

• Principais autores: Linda Gailite (Autor), Dmitrijs Rots (Autor), Ieva Pukite (Autor), Gunta Cernevska (Autor), Madara Kreile (Autor)
• Formato: Livro
• Publicado em: BMC, 2018-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert's syndrome and Crigler-Najjar syndrome types I and II. These syndromes are differentiated on the basis of UGT1A1 residual enzymatic activity and its affected bilirubin level...