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Mutation spectrum and biochemical features in infants with neonatal DubinJohnson syndrome

Chia sẻ: ViMoscow2711 ViMoscow2711 | Ngày: | Loại File: PDF | Số trang:6

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Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2).

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Nội dung Text: Mutation spectrum and biochemical features in infants with neonatal DubinJohnson syndrome

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