The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype
Author:
Funder
TUBİTAK
Suna and Inan Kırac Foundation
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10048-019-00594-1.pdf
Reference16 articles.
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3. Vankan P (2013) Prevalence gradients of Friedreich’s Ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge. J Neurochem 126(SUPPL.1):11–20. https://doi.org/10.1111/jnc.12215
4. Harding AE (1981) Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features. Brain. 104:589–620
5. Tsirikos AI, Smith G (2012) Scoliosis in patients with Friedreich’s ataxia. J Bone Joint Surg Br 94:684–689
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