Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients

Aral, Bernard; Coude, M.; London, Jacqueline; Aupetit, J.; Chassé, Jean-François; Zabot, M. T.; Chadefaux-Vekemans, Bernadette; Kamoun, P.

doi:10.1002/(sici)1098-1004(1997)9:1<81::aid-humu18>3.0.co;2-l

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Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients

Cited by 13 publications

References 5 publications

Cystathionine ?-synthase mutations in homocystinuria

Cystathionine ?-synthase mutations in homocystinuria

Spatial and Temporal Expression of the Cystathionine β-Synthase Gene During Early Human Development

Characterization of Mutations in the Cystathionine β-Synthase Gene in Irish Patients with Homocystinuria

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