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Authors: ROOTWELT H CHOU J GHAL WA BERGER R COSKUN T BRODTKORB E KVITTINGEN EA

Citation: H. Rootwelt et al., 2 MISSENSE MUTATIONS CAUSING TYROSINEMIA TYPE-1 WITH PRESENCE AND ABSENCE OF IMMUNOREACTIVE FUMARYLACETOACETASE, Human genetics, 93(6), 1994, pp. 615-619

Authors: ROOTWELT H BRODTKORB E KVITTINGEN EA

Citation: H. Rootwelt et al., IDENTIFICATION OF A FREQUENT PSEUDODEFICIENCY MUTATION IN THE FUMARYLACETOACETASE GENE, WITH IMPLICATIONS FOR DIAGNOSIS OF TYROSINEMIA TYPE-I, American journal of human genetics, 55(6), 1994, pp. 1122-1127

Authors: BRODTKORB E TORBERGSEN T NAKKEN KO ANDERSEN K GIMSE R SJAASTAD O

Citation: E. Brodtkorb et al., EPILEPTIC SEIZURES, ARTHROGRYPOSIS, AND MIGRATIONAL BRAIN DISORDERS -A SYNDROME, Acta neurologica Scandinavica, 90(4), 1994, pp. 232-240