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Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy  Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan 

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Presentation on theme: "Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy  Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan "— Presentation transcript:

1 Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy 
Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan  The Journal of Molecular Diagnostics  Volume 13, Issue 1, Pages (January 2011) DOI: /j.jmoldx Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Pedigree and putative genotypes inferred from families 17 and 24. The Journal of Molecular Diagnostics  , 41-47DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Genomic DNA sequence of exon 1 of the survival motor neuron (SMN) gene from the father in family 25. The father had an “A” insertion (indicated by the box) at codon 8 (underlined), resulting in a frame shift on this allele (mutated allele). The Journal of Molecular Diagnostics  , 41-47DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4 Figure 3 Histogram showing the results of 18 fetuses by multiplex ligation–dependent probe amplification (MLPA) analysis for SMN1 and SMN2 copy numbers. The Journal of Molecular Diagnostics  , 41-47DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions


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