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Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene Cover

Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene

By: G Diniz,  H Tekgul,  F Hazan,  K Yararbas and  A Tukun  
Open Access
|Jul 2016

References

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  7. Diniz G, Tosun Yildirim H, Akinci G, Hazan F, Ozturk A, Yararbas K, et al. Sarcolemmal alpha and gam-ma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene. Pediatr Neurol. 2014; 50(6): 640-647.
  8. Diniz G, Tosun Yildirim H, Gokben S, Serdaroglu G, Hazan F, Yararbas K, et al. Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene. Case Rep Genet. 2014; 2014: 248561. 10.1155/2014/248561.
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  10. Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord. 2001; 11(1): 80-87.
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Language: English
Page range: 71 - 76
Published on: Jul 9, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2016 G Diniz, H Tekgul, F Hazan, K Yararbas, A Tukun, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.