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Autor:
Ece Selçuk, Koray Kırımtay, Benan Temizci, Şeyma Akarsu, Elif Everest, Mehmet Barış Baslo, Meltem Demirkıran, Zuhal Yapıcı, Arzu Karabay
Publikováno v:
Molecular Genetics and Genomics. 297:1141-1150
In this study, we aimed to determine the genetic basis of a Turkish family related to hereditary spastic paraplegia (HSP) by exome sequencing. HSP is a progressive neurodegenerative disorder and displays genetic and clinical heterogeneity. The major