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Beschreibung
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.
Details
| Verlag | LAP LAMBERT Academic Publishing |
| Ersterscheinung | 05. Februar 2014 |
| Maße | 22 cm x 15 cm x 0.6 cm |
| Gewicht | 149 Gramm |
| Format | Softcover |
| ISBN-13 | 9783659518287 |
| Seiten | 88 |
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