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Results: 1-9 |
Results: 9
ALTERATIONS IN PROTEIN AGGREGATION AND DEGRADATION DUE TO MILD AND SEVERE MISSENSE MUTATIONS (A104D, R157N) IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE (PAH)
Authors: WATERS PJ PARNIAK MA HEWSON AS SCRIVER CR
Citation: Pj. Waters et al., ALTERATIONS IN PROTEIN AGGREGATION AND DEGRADATION DUE TO MILD AND SEVERE MISSENSE MUTATIONS (A104D, R157N) IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE (PAH), Human mutation, 12(5), 1998, pp. 344-354
TARGETED INACTIVATION OF NPT2 IN MICE LEADS TO SEVERE RENAL PHOSPHATEWASTING, HYPERCALCIURIA, AND SKELETAL ABNORMALITIES
Authors: BECK L KARAPLIS AC AMIZUKA N HEWSON AS OZAWA H TENENHOUSE HS
Citation: L. Beck et al., TARGETED INACTIVATION OF NPT2 IN MICE LEADS TO SEVERE RENAL PHOSPHATEWASTING, HYPERCALCIURIA, AND SKELETAL ABNORMALITIES, Proceedings of the National Academy of Sciences of the United Statesof America, 95(9), 1998, pp. 5372-5377
RENAL PHOSPHATE WASTING AND HYPERCALCIURIA IN NA-PHOSPHATECOTRANSPORTER (NPT2)-DEFICIENT MICE()
Authors: BECK L KARAPLIS AC HEWSON AS TENENHOUSE HS
Citation: L. Beck et al., RENAL PHOSPHATE WASTING AND HYPERCALCIURIA IN NA-PHOSPHATECOTRANSPORTER (NPT2)-DEFICIENT MICE(), Journal of bone and mineral research, 12, 1997, pp. 102-102
ASSIGNMENT OF RENAL-SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A2 TO MOUSE-CHROMOSOME BAND 13B BY IN-SITU HYBRIDIZATION()
Authors: ZHANG XX TENENHOUSE HS HEWSON AS MURER H EYDOUX P
Citation: Xx. Zhang et al., ASSIGNMENT OF RENAL-SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A2 TO MOUSE-CHROMOSOME BAND 13B BY IN-SITU HYBRIDIZATION(), Cytogenetics and cell genetics, 77(3-4), 1997, pp. 304-305
ASSIGNMENT OF RENAL SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A1 TO MOUSE CHROMOSOME BANDS 13A3-]A4 BY IN-SITU HYBRIDIZATION()
Authors: ZHANG XX TENENHOUSE HS HEWSON AS EYDOUX P
Citation: Xx. Zhang et al., ASSIGNMENT OF RENAL SPECIFIC NA-PHOSPHATE COTRANSPORTER GENE SLC17A1 TO MOUSE CHROMOSOME BANDS 13A3-]A4 BY IN-SITU HYBRIDIZATION(), Cytogenetics and cell genetics, 76(3-4), 1997, pp. 180-180
COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME
Authors: WATERS PJ HEWSON AS SCRIVER CR TREACY EP MARTINEZ A KNAPPSKOG PM PARNIAK MA
Citation: Pj. Waters et al., COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME, Biochemical Society transactions, 25(2), 1997, pp. 362-362
ANALYSIS OF THE [C.470G-]A-C.471A-]C] (R157N) MUTATION IN HUMAN PHENYLALANINE-HYDROXYLASE BY IN-VITRO PROTEIN EXPRESSION IN 3 SYSTEMS - CORRELATION WITH IN-VIVO PHENYLALANINE OXIDATION AND PHENYLKETONURIA PHENOTYPE
Authors: WATERS PJ HEWSON AS PARNIAK MA CARTER K KAYAALP E LAFRAMBOISE R TREACY EP SCRIVER CR
Citation: Pj. Waters et al., ANALYSIS OF THE [C.470G-]A-C.471A-]C] (R157N) MUTATION IN HUMAN PHENYLALANINE-HYDROXYLASE BY IN-VITRO PROTEIN EXPRESSION IN 3 SYSTEMS - CORRELATION WITH IN-VIVO PHENYLALANINE OXIDATION AND PHENYLKETONURIA PHENOTYPE, American journal of human genetics, 61(4), 1997, pp. 1532-1532
STRUCTURE OF MURINE AND HUMAN RENAL TYPE-II NA-PHOSPHATE COTRANSPORTER GENES (NPT2 AND NPT2)()
Authors: HARTMANN CM HEWSON AS KOS CH HILFIKER H SOUMOUNOU Y MURER H TENENHOUSE HS
Citation: Cm. Hartmann et al., STRUCTURE OF MURINE AND HUMAN RENAL TYPE-II NA-PHOSPHATE COTRANSPORTER GENES (NPT2 AND NPT2)(), Proceedings of the National Academy of Sciences of the United Statesof America, 93(14), 1996, pp. 7409-7414
COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE (PAH) A104D MUTANT,ASSOCIATED WITH VARIANT PHENYLKETONURIA (PKU) AND WILD-TYPE ENZYME
Authors: WATERS PJ HEWSON AS SCRIVER CR MARTINEZ A KNAPPSKOG PM PARNIAK MA
Citation: Pj. Waters et al., COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE (PAH) A104D MUTANT,ASSOCIATED WITH VARIANT PHENYLKETONURIA (PKU) AND WILD-TYPE ENZYME, Immunology, 89, 1996, pp. 377-377
Risultati: 1-9 |