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

Kemal Yariz

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X-linked Spinal Muscular Atrophy: the Linkage, the Gene & Smn Complex

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 Böcker     Pocketbok   (Bok med mjukt omslag och limmad rygg)
Releasedatum 5 februari 2014
ISBN13 9783659518287
Utgivare LAP LAMBERT Academic Publishing
Antal sidor 88
Mått 150 × 5 × 226 mm   ·   140 g
Språk Engelska