X-linked Spinal Muscular Atrophy: the Linkage, the Gene & Smn Complex - Kemal Yariz - Books - LAP LAMBERT Academic Publishing - 9783659518287 - February 5, 2014
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Kemal Yariz
X-linked Spinal Muscular Atrophy: the Linkage, the Gene & Smn Complex

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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 Books     Paperback Book   (Book with soft cover and glued back)
Released February 5, 2014
ISBN13 9783659518287
Publishers LAP LAMBERT Academic Publishing
Pages 88
Dimensions 150 × 5 × 226 mm   ·   149 g
Language German  

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