Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Ken L. Chambliss, Debra D. Hinson, Flavia Trettel, Patrizia Malaspina, Andrea Novelletto, Cornelis Jakobs, K. Michael Gibson

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67 Scopus citations

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Medicine & Life Sciences