A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Reference17 articles.
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4. Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff Disease;Brown;Biochimica et Biophysica Acta,1992
5. Impact of premature stop codon on mRNA levels in infantile Sandhoff disease;Zhan;Human Molecular Genetics,1994
Cited by 7 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 presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations;Orphanet Journal of Rare Diseases;2018-08-03
2. Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis;Clinical Neurology and Neurosurgery;2018-04
3. Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans;Molecular and Cellular Probes;2013-02
4. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients;Gene;2013-01
5. GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients;Gene;2012-09
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