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X-linked Spinal Muscular Atrophy: the Linkage, the Gene & Smn Complex
Kemal Yariz
X-linked Spinal Muscular Atrophy: the Linkage, the Gene & Smn Complex
Kemal Yariz
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.
Media | Boeken Paperback Book (Boek met zachte kaft en gelijmde rug) |
Vrijgegeven | 5 februari 2014 |
ISBN13 | 9783659518287 |
Uitgevers | LAP LAMBERT Academic Publishing |
Pagina's | 88 |
Afmetingen | 150 × 5 × 226 mm · 140 g |
Taal en grammatica | Engels |
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