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Aral B., Coude M., London J., Aupetit J., Chasse J.F., Zabot M.T., Chadefaux-Vekemans B., Kamoun P. Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients. - Hum.Mut., 1997, v. 9, p. 81-82.
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