Biochemical and molecular characterization of 18 patients...

Human Mutation 2007 Vol. 28; Iss. 1

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Barbara Plecko, Karl Paul, Eduard Paschke, Sylvia Stoeckler-Ipsiroglu, Eduard Struys, Cornelis Jakobs, Hans Hartmann, Thomas Luecke, Matteo di Capua, Christoph Korenke, Christiane Hikel, Elke Reutersh
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Volume:
28
Year:
2007
Language:
english
Pages:
8
DOI:
10.1002/humu.20433
File:
PDF, 299 KB
english, 2007
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