Implementation of SMA carrier testing in
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Ivon CuscΓ³; MarΓa J. BarcelΓ³; Montserrat Baiget; Eduardo F. Tizzano
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Article
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2002
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John Wiley and Sons
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English
β 259 KB
The degeneration and loss of motor neurons of the anterior horn characterize children affected with spinal muscular atrophy (SMA). Mutations in the survival motor neuron gene (SMN1) are determinant for the development of the disease whereas the number of copies of SMN2, the highly homologous copy of