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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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| Authors: | M Arenas L D Fairbanks K Vijayakumar L Carr E Escuredo A M Marinaki |
| Institution: | (1) Purine Research Laboratory, Department of Chemical Pathology, St Thomas’ Hospital, London, UK;(2) Paediatric Neurology, Great Ormond Street Hospital, London, UK;(3) Purine Research Laboratory, 4th Floor, North Wing, St Thomas’ Hospital, London, SE1 7EH, UK |
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