Associated Papers
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay.
Zhang M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.
Hong JM et al.
Chinese Medical Journal, 2020
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu YJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
He J et al.
Gene, 2013
[Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
Peng YY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
[Study of NAIP gene in spinal muscular atrophy].
Ma H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999
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