X-Linked Spinal Muscular Atrophy: The Linkage, The Gene & SMN Complex - Yariz, Kemal
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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.

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Produktbeschreibung
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.
Autorenporträt
Dr. Kemal Yariz received his BS in Molecular Biology & Genetics from Bogazici University in Turkey and his PhD in Biochemistry & Molecular Biology from University of Miami (FL). He has been continuing his research in various postdoctoral appointments at University of Miami School of Medicine publishing papers in various peer-reviewed journals.