Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. It is usually classified into three forms, infantile, juvenile, or adult, based on age at onset and severity of central nervous system involvement. Because of th...

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Bibliografiske detaljer
Udgivet i:Case Rep Genet
Main Authors: Bouhouche, Ahmed, Tibar, Houyam, Kriouale, Yamna, Jiddane, Mohammed, Smaili, Imane, Bouslam, Naima, Benomar, Ali, Yahyaoui, Mohamed, El Fahime, Elmostafa
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6276426/
https://ncbi.nlm.nih.gov/pubmed/30581635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8635698
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