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Results: 1-9 |
Results: 9
MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/
Authors: POPESCU T BLAZKOVA M KOZAK L JEBELEANU G POPESCU A
Citation: T. Popescu et al., MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/, Human mutation, 12(5), 1998, pp. 314-319
R395W, K497E AND P664L - 3 MISSENSE MUTATIONS IN THE LDL RECEPTOR GENE IN CZECH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: KUHROVA V KOZAK L SOSKA V FAJKUSOVA L STEJSKAL J BLAZKOVA M FREIBERGER T JURTIKOVA A
Citation: V. Kuhrova et al., R395W, K497E AND P664L - 3 MISSENSE MUTATIONS IN THE LDL RECEPTOR GENE IN CZECH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 1998, pp. 327-327
MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/
Authors: POPESCU T BLAZKOVA M KOZAK L JEBELEANU G POPESCU A
Citation: T. Popescu et al., MUTATION SPECTRUM AND PHENYLALANINE-HYDROXYLASE RFLP VNTR BACKGROUND IN 44 ROMANIAN PHENYLKETONURIC ALLELES/, European journal of human genetics, 6, 1998, pp. 3022-3022
R252W E178G PHENYLALANINE-HYDROXYLASE GENOTYPE IN A ROMANIAN NON-PKU HYPERPHENYLALANINAEMIC PATIENT/
Authors: POPESCU T POPESCU A KOZAK L BLAZKOVA M JEBELEANU G
Citation: T. Popescu et al., R252W E178G PHENYLALANINE-HYDROXYLASE GENOTYPE IN A ROMANIAN NON-PKU HYPERPHENYLALANINAEMIC PATIENT/, Acta paediatrica, 87(10), 1998, pp. 1103-1104
FAST DETECTION OF A (CA)(18) MICROSATELLITE REPEAT IN THE IGE RECEPTOR GENE BY CAPILLARY ELECTROPHORESIS WITH LASER-INDUCED FLUORESCENCE DETECTION
Authors: KLEPARNIK K MALA Z HAVAC Z BLAZKOVA M HOLLA L BOCEK P
Citation: K. Kleparnik et al., FAST DETECTION OF A (CA)(18) MICROSATELLITE REPEAT IN THE IGE RECEPTOR GENE BY CAPILLARY ELECTROPHORESIS WITH LASER-INDUCED FLUORESCENCE DETECTION, Electrophoresis, 19(2), 1998, pp. 249-255
CHARACTERIZATION OF 2 NONSENSE MUTATIONS IN THE HUMAN DYSTROPHIN GENE
Authors: FAJKUSOVA L PEKARIK V HAJEK J KUHROVA V BLAZKOVA M FAJKUS J
Citation: L. Fajkusova et al., CHARACTERIZATION OF 2 NONSENSE MUTATIONS IN THE HUMAN DYSTROPHIN GENE, Journal of neurogenetics, 12(3), 1998, pp. 183-189
ANGIOTENSIN-I-CONVERTING-ENZYME AND ANGIOTENSINOGEN GENE INTERACTION AND PREDICTION OF ESSENTIAL-HYPERTENSION
Authors: VASKU A SOUCEK M ZNOJIL V RIHACEK I TSCHOPLOVA S STRELCOVA L CIDL K BLAZKOVA M HAJEK D HOLLA L VACHA J
Citation: A. Vasku et al., ANGIOTENSIN-I-CONVERTING-ENZYME AND ANGIOTENSINOGEN GENE INTERACTION AND PREDICTION OF ESSENTIAL-HYPERTENSION, Kidney international, 53(6), 1998, pp. 1479-1482
MUTATION AND HAPLOTYPE ANALYSIS OF PHENYLALANINE-HYDROXYLASE ALLELES IN CLASSICAL PKU PATIENTS FROM THE CZECH-REPUBLIC - IDENTIFICATION OF 4 NOVEL MUTATIONS
Authors: KOZAK L BLAZKOVA M KUHROVA V PIJACKOVA A RUZICKOVA S STASTNA S
Citation: L. Kozak et al., MUTATION AND HAPLOTYPE ANALYSIS OF PHENYLALANINE-HYDROXYLASE ALLELES IN CLASSICAL PKU PATIENTS FROM THE CZECH-REPUBLIC - IDENTIFICATION OF 4 NOVEL MUTATIONS, Journal of Medical Genetics, 34(11), 1997, pp. 893-898
PHENYLKETONURIA MUTATIONS AND THEIR RELATION TO RFLP HAPLOTYPES AT THE PAH LOCUS IN CZECH PKU FAMILIES
Authors: KOZAK L KUHROVA V BLAZKOVA M ROMANO V FAJKUSOVA L DVORAKOVA D PIJACKOVA A
Citation: L. Kozak et al., PHENYLKETONURIA MUTATIONS AND THEIR RELATION TO RFLP HAPLOTYPES AT THE PAH LOCUS IN CZECH PKU FAMILIES, Human genetics, 96(4), 1995, pp. 472-476
Risultati: 1-9 |