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Results: 1-8 |
Results: 8
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
Authors: Solis, C Aizencang, GI Astrin, KH Bishop, DF Desnick, R
Citation: C. Solis et al., Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria, J CLIN INV, 107(6), 2001, pp. 753-762
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene
Authors: Ramdall, RB Cunha, L Astrin, KH Katz, DR Anderson, KE Glucksman, M Bottomley, SS Desnick, RJ
Citation: Rb. Ramdall et al., Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene, GENET MED, 2(5), 2000, pp. 290-295
Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
Authors: Ashton-Prolla, P Tong, BZ Shabbeer, J Astrin, KH Eng, CM Desnick, RJ
Citation: P. Ashton-prolla et al., Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes, J INVES MED, 48(4), 2000, pp. 227-235
Uroporphyrinogen III synthase - An alternative promoter controls erythroid-specific expression in the murine gene
Authors: Aizencang, GI Bishop, DF Forrest, D Astrin, KH Desnick, RJ
Citation: Gi. Aizencang et al., Uroporphyrinogen III synthase - An alternative promoter controls erythroid-specific expression in the murine gene, J BIOL CHEM, 275(4), 2000, pp. 2295-2304
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
Authors: Topaloglu, AK Ashley, GA Tong, BZ Shabbeer, J Astrin, KH Eng, CM Desnick, RJ
Citation: Ak. Topaloglu et al., Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease, MOL MED, 5(12), 1999, pp. 806-811
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP)
Authors: Solis, C Lopez-Echaniz, I Sefarty-Graneda, D Astrin, KH Desnick, RJ
Citation: C. Solis et al., Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP), MOL MED, 5(10), 1999, pp. 664-671
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founderof the common G111R mutation
Authors: De Siervi, A Rossetti, MV Parera, VE Astrin, KH Aizencang, GI Glass, IA Batlle, AMD Desnick, RJ
Citation: A. De Siervi et al., Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founderof the common G111R mutation, AM J MED G, 86(4), 1999, pp. 366-375
Molecular genetics of congenital erythropoietic porphyria
Authors: Desnick, RJ Glass, IA Xu, WM Solis, C Astrin, KH
Citation: Rj. Desnick et al., Molecular genetics of congenital erythropoietic porphyria, SEM LIV DIS, 18(1), 1998, pp. 77-84
Risultati: 1-8 |