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The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype |
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| Authors: | Candayan Ayşe Yunisova Gulshan Çakar Arman Durmuş Hacer Başak A. Nazlı Parman Yeşim Battaloğlu Esra |
| Affiliation: | 1.Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey ;2.Neuromuscular Unit, Istanbul Faculty of Medicine, Department of Neurology, Istanbul University, Istanbul, Turkey ;3.School of Medicine, Department of Molecular Biology and Genetics, KUTTAM-NDAL, Koç University, Topkapı, Istanbul, Turkey ; |
| Abstract: | neurogenetics - Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from... |
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