Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (<i>GBA</i>) mutations. The molecular diagnosis of GD is complicated by the presence of recombinant alleles originating from a highly homologous pseudogene. Clinical exome sequencing (CES) is a...

Full description

Bibliographic Details
Main Authors: Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Paolo Peruzzo, Maurizio Scarpa, Giovanni Ciana, Andrea Dardis
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
<i>GBA</i>
clinical exome sequencing
MLPA
Online Access:https://www.mdpi.com/1422-0067/22/11/5538

Internet

https://www.mdpi.com/1422-0067/22/11/5538

Similar Items