Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the <i>ABCD1</i> Gene

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the <i>ABCD1</i> Gene

Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the <i>ABCD1</i> gene is increasing. In these cases, functional tests in fibroblasts may help to classify a v...

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Bibliographic Details
Main Authors: Stephanie I. W. van de Stadt, Petra A. W. Mooyer, Inge M. E. Dijkstra, Conny J. M. Dekker, Divya Vats, Moin Vera, Maura R. Z. Ruzhnikov, Keith van Haren, Nelson Tang, Klaas Koop, Michel A. Willemsen, Joannie Hui, Frédéric M. Vaz, Merel S. Ebberink, Marc Engelen, Stephan Kemp, Sacha Ferdinandusse
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
peroxisomal disorder
fibroblasts
adrenoleukodystrophy
variants of unknown significance
newborn screening
Online Access:https://www.mdpi.com/2073-4425/12/12/1930

Internet

https://www.mdpi.com/2073-4425/12/12/1930

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