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Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1
Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder that has an autosomal recessive pattern of inheritance. The gene for WS, wolfram syndrome 1 gene (WFS1), is located on human chromosome 4p16.1 and encodes a transmembrane protein. To date, approximately 230 mutations in WFS1 ha...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4592972/ https://ncbi.nlm.nih.gov/pubmed/26435059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep14731 |
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