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Results: 1-9 |
Results: 9
CONGENITAL ERYTHROPOIETIC PORPHYRIA - PROLONGED HIGH-LEVEL EXPRESSIONAND CORRECTION OF THE HEME BIOSYNTHETIC DEFECT BY RETROVIRAL-MEDIATEDGENE-TRANSFER INTO PORPHYRIC AND ERYTHROID-CELLS
Authors: KAUPPINEN R GLASS IA AIZENCANG G ASTRIN KH ATWEH GF DESNICK RJ
Citation: R. Kauppinen et al., CONGENITAL ERYTHROPOIETIC PORPHYRIA - PROLONGED HIGH-LEVEL EXPRESSIONAND CORRECTION OF THE HEME BIOSYNTHETIC DEFECT BY RETROVIRAL-MEDIATEDGENE-TRANSFER INTO PORPHYRIC AND ERYTHROID-CELLS, Molecular genetics and metabolism ( Molecular genetics and metabolism (Print)), 65(1), 1998, pp. 10-17
CONGENITAL ERYTHROPOIETIC PORPHYRIA SUCCESSFULLY TREATED BY ALLOGENEIC BONE-MARROW TRANSPLANTATION
Authors: TEZCAN I XU W GURGEY A TUNCER M CETIN M ONER C YETGIN S ERSOY F AIZENCANG G ASTRIN KH DESNICK RJ
Citation: I. Tezcan et al., CONGENITAL ERYTHROPOIETIC PORPHYRIA SUCCESSFULLY TREATED BY ALLOGENEIC BONE-MARROW TRANSPLANTATION, Blood, 92(11), 1998, pp. 4053-4058
FAMILIAL PORPHYRIA-CUTANEA-TARDA - CHARACTERIZATION OF 7 NOVEL UROPORPHYRINOGEN DECARBOXYLASE MUTATIONS AND FREQUENCY OF COMMON HEMOCHROMATOSIS ALLELES
Authors: MENDEZ M SORKIN L ROSSETTI MV ASTRIN KH BATLLE AMD PARERA VE AIZENCANG G DESNICK RJ
Citation: M. Mendez et al., FAMILIAL PORPHYRIA-CUTANEA-TARDA - CHARACTERIZATION OF 7 NOVEL UROPORPHYRINOGEN DECARBOXYLASE MUTATIONS AND FREQUENCY OF COMMON HEMOCHROMATOSIS ALLELES, American journal of human genetics, 63(5), 1998, pp. 1363-1375
MOLECULAR-BASIS OF CONGENITAL ERYTHROPOIETIC PROPHYRIA - MUTATIONS INTHE HUMAN UROPORPHYRINOGEN-III SYNTHASE GENE
Authors: XU WM ASTRIN KH DESNICK RJ
Citation: Wm. Xu et al., MOLECULAR-BASIS OF CONGENITAL ERYTHROPOIETIC PROPHYRIA - MUTATIONS INTHE HUMAN UROPORPHYRINOGEN-III SYNTHASE GENE, Human mutation, 7(3), 1996, pp. 187-192
ACUTE INTERMITTENT PORPHYRIA - A SINGLE-BASE DELETION AND A NONSENSE MUTATION IN THE HUMAN HYDROXYMETHYLBILANE SYNTHASE GENE, PREDICTING TRUNCATIONS OF THE ENZYME POLYPEPTIDE
Authors: LEE GY ASTRIN KH DESNICK RJ
Citation: Gy. Lee et al., ACUTE INTERMITTENT PORPHYRIA - A SINGLE-BASE DELETION AND A NONSENSE MUTATION IN THE HUMAN HYDROXYMETHYLBILANE SYNTHASE GENE, PREDICTING TRUNCATIONS OF THE ENZYME POLYPEPTIDE, American journal of medical genetics, 58(2), 1995, pp. 155-158
CLINICAL AND MOLECULAR DELINEATION OF SEVERE HOMOZYGOUS DOMINANT ACUTE INTERMITTENT PORPHYRIA
Authors: XU W SOLIS C BERMEJO AM ASTRIN KH DESNICK RJ
Citation: W. Xu et al., CLINICAL AND MOLECULAR DELINEATION OF SEVERE HOMOZYGOUS DOMINANT ACUTE INTERMITTENT PORPHYRIA, Pediatric research, 37(4), 1995, pp. 155-155
MOLECULAR-BASIS OF ACUTE INTERMITTENT PORPHYRIA - MUTATIONS AND POLYMORPHISMS IN THE HUMAN HYDROXYMETHYLBILANE SYNTHASE GENE
Authors: ASTRIN KH DESNICK RJ
Citation: Kh. Astrin et Rj. Desnick, MOLECULAR-BASIS OF ACUTE INTERMITTENT PORPHYRIA - MUTATIONS AND POLYMORPHISMS IN THE HUMAN HYDROXYMETHYLBILANE SYNTHASE GENE, Human mutation, 4(4), 1994, pp. 243-252
ACUTE INTERMITTENT PORPHYRIA - IDENTIFICATION AND EXPRESSION OF EXONIC MUTATIONS IN THE HYDROXYMETHYLBILANE SYNTHASE GENE - AN INITIATION CODON MISSENSE MUTATION IN THE HOUSEKEEPING TRANSCRIPT CAUSES VARIANT ACUTE INTERMITTENT PORPHYRIA WITH NORMAL EXPRESSION OF THE ERYTHROID-SPECIFIC ENZYME
Authors: CHEN CH ASTRIN KH LEE G ANDERSON KE DESNICK RJ
Citation: Ch. Chen et al., ACUTE INTERMITTENT PORPHYRIA - IDENTIFICATION AND EXPRESSION OF EXONIC MUTATIONS IN THE HYDROXYMETHYLBILANE SYNTHASE GENE - AN INITIATION CODON MISSENSE MUTATION IN THE HOUSEKEEPING TRANSCRIPT CAUSES VARIANT ACUTE INTERMITTENT PORPHYRIA WITH NORMAL EXPRESSION OF THE ERYTHROID-SPECIFIC ENZYME, The Journal of clinical investigation, 94(5), 1994, pp. 1927-1937
NATURE AND FREQUENCY OF MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE THAT CAUSE FABRY DISEASE
Authors: ENG CM RESNICKSILVERMAN LA NIEHAUS DJ ASTRIN KH DESNICK RJ
Citation: Cm. Eng et al., NATURE AND FREQUENCY OF MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE THAT CAUSE FABRY DISEASE, American journal of human genetics, 53(6), 1993, pp. 1186-1197
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