Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 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 ABCD1 gene is increasing. In these cases, functional tests in fibroblasts may help to classify a variant as (likely)...

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Detalles Bibliográficos
Autores principales: van de Stadt, Stephanie I. W., Mooyer, Petra A. W., Dijkstra, Inge M. E., Dekker, Conny J. M., Vats, Divya, Vera, Moin, Ruzhnikov, Maura R. Z., van Haren, Keith, Tang, Nelson, Koop, Klaas, Willemsen, Michel A., Hui, Joannie, Vaz, Frédéric M., Ebberink, Merel S., Engelen, Marc, Kemp, Stephan, Ferdinandusse, Sacha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701351/
https://www.ncbi.nlm.nih.gov/pubmed/34946879
http://dx.doi.org/10.3390/genes12121930

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