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

The American Journal of Human Genetics · 1998 · 77 citations · 19 references

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