An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

التفاصيل البيبلوغرافية
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
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

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