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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 (GBA) 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 rapid genetic appr...

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Detalles Bibliográficos
Autores principales:	Zampieri, Stefania, Cattarossi, Silvia, Pavan, Eleonora, Barbato, Antonio, Fiumara, Agata, Peruzzo, Paolo, Scarpa, Maurizio, Ciana, Giovanni, Dardis, Andrea
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197298/ https://www.ncbi.nlm.nih.gov/pubmed/34073924 http://dx.doi.org/10.3390/ijms22115538

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