AAAAAA

   
Results: 1-5 |
Results: 5
IDENTIFICATION OF 3 NOVEL MUTATIONS IN THE CFTR GENE, R117P, DELTA-D192, AND 3121-1G-]A IN 4 FRENCH PATIENTS
Authors: FELDMANN D SARDET A COUGOUREUX E PLOUVIER E FONTAINE JL TOURNIER G AYMARD P
Citation: D. Feldmann et al., IDENTIFICATION OF 3 NOVEL MUTATIONS IN THE CFTR GENE, R117P, DELTA-D192, AND 3121-1G-]A IN 4 FRENCH PATIENTS, Human mutation, 1998, pp. 78-80
CLINICAL-EVALUATION OF THE CF(12)M CYSTIC-FIBROSIS DNA DIAGNOSTIC KIT
Authors: HOUDAYER C CAZENEUVE C COUGOUREUX E MAGNIER C TREDANO M AYMARD P GOOSSENS M FELDMANN D
Citation: C. Houdayer et al., CLINICAL-EVALUATION OF THE CF(12)M CYSTIC-FIBROSIS DNA DIAGNOSTIC KIT, Clinical chemistry, 44(6), 1998, pp. 1346-1348
MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY (VOL 6, PG 17, 1997)
Authors: KAROLYI L KONRAD M KOCKERLING A ZIEGLER A ZIMMERMANN DK ROTH B WIEG C GRZESCHIK KH KOCH MC SEYBERTH HW VARGAS R FORESTIER L JEAN G DESCHAUX M RIZZONI GF NIAUDET P ANTIGNAC C FELDMANN D LORRIDON F COUGOUREUX E LAROZE F ALESSANDRI JL DAVID L SAUNIER P DESCHENES G HILDEBRANDT F VOLLMER M PROESMANS W BRANDIS M VANDENHEUVEL LPWJ LEMMINK HH NILLESEN W MONNENS LAH KNOERS NVAM GUAYWOODFORD LM WRIGHT CJ MADRIGAL G HEBERT SC
Citation: L. Karolyi et al., MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY (VOL 6, PG 17, 1997), Human molecular genetics, 6(4), 1997, pp. 650-650
MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: KAROLYI L KONRAD M KOCKERLING A ZIEGLER A ZIMMERMANN DK ROTH B WIEG C GRZESCHIK KH KOCH MC SEYBERTH HW VARGAS R FORESTIER L JEAN G DESCHAUX M RIZZONI GF NIAUDET P ANTIGNAC C FELDMANN D LORRIDON F COUGOUREUX E LAROZE F ALESSANDRI JL DAVID L SAUNIER P DESCHENES G HILDEBRANDT F VOLLMER M PROESMANS W BRANDIS M VANDENHEUVEL LPJ LEMMINK HH NILLESEN W MONNENS LAH KNOERS NVAM GUAYWOODFORD LM WRIGHT CJ MADRIGAL G HEBERT SC
Citation: L. Karolyi et al., MUTATIONS IN THE GENE ENCODING THE INWARDLY-RECTIFYING RENAL POTASSIUM CHANNEL, ROMK, CAUSE THE ANTENATAL VARIANT OF BARTTER-SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY, Human molecular genetics, 6(1), 1997, pp. 17-26
CFTR GENE ANALYSIS IN CYSTIC-FIBROSIS PATIENTS - DETECTION OF 91 PERCENT OF MOLECULAR DEFECTS AND IDENTIFICATION OF THE NOVEL MUTATION D979V
Authors: PLOUVIER E COUGOUREUX E SARDET A TOURNIER G AYMARD P FELDMANN D
Citation: E. Plouvier et al., CFTR GENE ANALYSIS IN CYSTIC-FIBROSIS PATIENTS - DETECTION OF 91 PERCENT OF MOLECULAR DEFECTS AND IDENTIFICATION OF THE NOVEL MUTATION D979V, Annales de genetique, 40(3), 1997, pp. 185-188
Risultati: 1-5 |