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Article

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2021

Khabou Boudour, Hsairi Manel, Gargouri Lamia, Miled Nabil, Barbu Véronique, Fakhfakh Faiza

Abstract excerpt

BACKGROUND AND AIMS: The Dubin Johnson Syndrome (DJS) occurs mostly in young adults but an early-onset of the disease has been reported in less common forms (Neonatal DJS and Infantile DJS). In this case, the clinical findings are of limit for the DJS diagnosis. Hence, the genetic testing remains the method of choice to provide an accurate diagnosis. In our study, we aimed to perform a genetic analysis for two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33713692
DOI: 10.1016/j.cca.2021.03.006

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