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.

About the author

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.

Product details

• Authors: Kemal Yariz
• Publisher: LAP Lambert Academic Publishing
• Languages: English, German
• Product format: Paperback / Softback
• Released: 01.01.2014
• EAN: 9783659518287
• ISBN: 978-3-659-51828-7
• No. of pages: 88
• Subject: Natural sciences, medicine, IT, technology > Biology > Genetics, genetic engineering