OP-2 WILSON DISEASE (WD) DIAGNOSIS WITH NEXT-GENERATION SEQUENCING (NGS) IN CLINICAL PRACTICE: A PILOT STUDY

OP-2 WILSON DISEASE (WD) DIAGNOSIS WITH NEXT-GENERATION SEQUENCING (NGS) IN CLINICAL PRACTICE: A PILOT STUDY

Conflict of interest: Yes, Ultragenyx has provided 25 kits for copper panel genotyping by NGS at Mendelics laboratory Introduction and Objectives: Wilson disease (WD) is an autosomal recessive disorder caused by a defect in the ATP7B protein, leading to copper overload. ATP7B genotyping has been per...

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Main Authors: Marta Mitiko Deguti, Michele Soares Gomes Gouvêa, Debora Raquel Benedita Terrabuio, Thiago Ferreira Araújo, Gilda Porta, Egberto Reis Barbosa, Eduardo Luiz Rachid Cançado
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Annals of Hepatology
Online Access:http://www.sciencedirect.com/science/article/pii/S1665268124003831
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