Concepedia

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy

Jin He, Qi‐Jie Zhang, Qifang Lin, Ya‐Fang Chen, Xiaozhen Lin, Min-Ting Lin, Shen-Xing Murong, Ning Wang, Wan‐Jin Chen

Gene · 2013 · 59 citations · 20 references

DOI

Concepts

References

20

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

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Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Markus Feldkötter, Verena Schwarzer, Radu Wirth et al. · The American Journal of Human Genetics · 2002 · 1K citations · Full text

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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Natalie Roy, Mani S. Mahadevan, Michael D. McLean et al. · Cell · 1995 · 971 citations · Full text

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International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

Theodore L. Munsat, Kay E. Davies · Neuromuscular Disorders · 1992 · 655 citations

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