دورية أكاديمية
An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency
العنوان: | An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency |
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المؤلفون: | Arenas, M., Fairbanks, L. D., Vijayakumar, K., Carr, L., Escuredo, E., Marinaki, A. M. |
المصدر: | Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. August 2009 32(4):560-569 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 01418955 15732665 |
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DOI: | 10.1007/s10545-009-1151-7 |