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X-Linked Spinal Muscular Atrophy: The Linkage, The Gene & SMN Complex
Product ID : 37980757
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Galleon Product ID
37980757
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4,041
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About X-Linked Spinal Muscular Atrophy: The Linkage, The
X-Linked Spinal Muscular Atrophy (XL-SMA) is a rare congenital disorder characterized by multiple joint contractures. It is associated with hypotonia, areflexia, chest deformities and congenital joint contractures. The purpose of this study is to refine the XL-SMA gene region and discover the XL-SMA gene. In addition to that, the gene product was investigated to delineate the genotype-phenotype correlation. This study will hopefully shine a light to a rare disorder which affects newborns.
