Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I-Reference-Cited by-同舟云学术

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Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

Published:1996-12-01 Issue:12 Volume:5 Page:1971-1976
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:
Short-container-title:

Author:

Brahe C

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/5/12/1971/1865147/5-12-1971.pdf

Cited by 88 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. Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript;Frontiers in Neurology;2023-09-20

2. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development;International Journal of Molecular Sciences;2021-07-23

3. Advances in therapeutic development for spinal muscular atrophy;Future Medicinal Chemistry;2014-06

4. Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug‐like compounds;EMBO Molecular Medicine;2013-06-05

5. Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7;BMC Medical Genetics;2012-09-20

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