Mutational Spectrum of the Succinate Semialdehyde Dehydrogenase (ALDH5A1) Gene and Functional Analysis of 27 Novel Disease-Causing Mutations in Patients with SSADH Deficiency

Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto, Patrizia Malaspina, Gajja S. Salomons, George D. Maropoulos, Cornelis Jakobs, Markus Grompe, K. Michael Gibson

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