Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

Glycogen storage diseases (GSDs) are the heterogeneous group of disorders caused by mutations in at least 30 different genes. Different types of GSDs, especially liver GSDs, take overlapping symptoms and can be clinically indistinguishable. This survey evaluated the use of whole-exome sequencing (WE...

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Detalles Bibliográficos
Autores principales: Eghbali, Maryam, Fatemi, Kiyana Sadat, Salehpour, Shadab, Abiri, Maryam, Saei, Hassan, Talebi, Saeed, Olyaei, Nasrin Alipour, Yassaee, Vahid Reza, Modarressi, Mohammad Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831547/
https://www.ncbi.nlm.nih.gov/pubmed/33505429
http://dx.doi.org/10.3389/fgene.2020.601566

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