Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants-Reference-Cited by-同舟云学术

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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Published:2012-07-27 Issue:7 Volume:7 Page:e41516
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Zampieri Stefania,Cattarossi Silvia,Oller Ramirez Ana Maria,Rosano Camillo,Lourenco Charles Marques,Passon Nadia,Moroni Isabella,Uziel Graziella,Pettinari Antonella,Stanzial Franco,de Kremer Raquel Dodelson,Azar Nydia Beatriz,Hazan Filiz,Filocamo Mirella,Bembi Bruno,Dardis Andrea

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genetic features of a case with juvenile onset sandhoff disease;BMC Neurology;2023-06-21

2. P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease;Metabolic Brain Disease;2022-10-03

3. Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases;Biomedicines;2022-07-29

4. Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia;Cells;2022-03-12

5. Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease;Child Neurology Open;2022-01

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