Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1

Author:

Qian Xuli,Qin Luyang,Xing Guangqian,Cao Xin

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Reference62 articles.

1. de Heredia, M. L., Clèries R. & Nunes V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genetics in Medicine 15, 497–506 (2013).

2. Ayme, S. et al. Diagnosis and clinical features of Wolfram Syndrome. Management of Wolfram Syndrome: A Clinical Guideline. (2014) ( http://euro-wabb.org/images/euro-wabb/guidelines/Wolfram_guideline_V14_%2028_04_2014.pdf ). EURO-WABB Project. Accessed: 28th April 2014.

3. Barrett, T. G., Bundey S. E. & Macleod A. F. Neurodegeneration and diabetes: UK nationwide study of wolfram (didmoad) syndrome. Lancet 346, 1458–1463 (1995).

4. Wolfram, D. J. & Wagener, H. P. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clinic Proceedings 13, 715–718 (1938).

5. Matsunaga, K. et al. Wolfram syndrome in the Japanese population: molecular analysis of WFS1 gene and characterization of clinical features. PLoS One 9, e106906 (2014).

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