Impact of premature stop codons on mRNA levels in infantile Sandhoff disease-Reference-Cited by-同舟云学术

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Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

Published:1994-01-01 Issue:1 Volume:3 Page:139-145
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Zhang Z.-X.,Wakamatsu N.,Mules E. H.,Thomas G. H.,Gravel R. A.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/3/1/139/1628376/3-1-139.pdf

Cited by 44 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. Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses;Clinical Case Reports;2020-08-11

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. Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus;European Journal of Paediatric Neurology;2014-05

4. 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

5. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients;Gene;2013-01

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