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Results: 1-7 |
Results: 7
MUTATION ANALYSIS IN 11 FRENCH PATIENTS WITH FABRY-DISEASE
Authors: GUFFON N FROISSART R CHEVALIERPORST F MAIRE I
Citation: N. Guffon et al., MUTATION ANALYSIS IN 11 FRENCH PATIENTS WITH FABRY-DISEASE, Human mutation, 1998, pp. 288-290
40 KILOBASE DELETION (CF 40 KB DEL 4-10) REMOVES EXONS 4 TO 10 OF THECYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE
Authors: CHEVALIERPORST F BONARDOT AM CHAZALETTE JP MATHIEU M BOZON D
Citation: F. Chevalierporst et al., 40 KILOBASE DELETION (CF 40 KB DEL 4-10) REMOVES EXONS 4 TO 10 OF THECYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE, Human mutation, 1998, pp. 291-294
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE
Authors: HERGERSBERG M BALAKRISHNAN J BETTECKEN T CHEVALIERPORST F BRAGGER C BURGER R EINSCHENK I LIECHTIGALLATI S MORRIS M SCHORDERET D THONNEY F MOSER H MALIK N
Citation: M. Hergersberg et al., NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE, Human genetics, 100(2), 1997, pp. 220-223
MUTATION ANALYSIS IN 24 FRENCH PATIENTS WITH GLYCOGEN-STORAGE-DISEASETYPE 1A
Authors: CHEVALIERPORST F BOZON D BONARDORT AM BRUNI N MITHIEUX G MATHIEU M MAIRE I
Citation: F. Chevalierporst et al., MUTATION ANALYSIS IN 24 FRENCH PATIENTS WITH GLYCOGEN-STORAGE-DISEASETYPE 1A, Journal of Medical Genetics, 33(5), 1996, pp. 358-360
MUTATION ANALYSIS IN 600 FRENCH CYSTIC-FIBROSIS PATIENTS
Authors: CHEVALIERPORST F BONARDOT AM GILLY R CHAZALETTE JP MATHIEU M BOZON D
Citation: F. Chevalierporst et al., MUTATION ANALYSIS IN 600 FRENCH CYSTIC-FIBROSIS PATIENTS, Journal of Medical Genetics, 31(7), 1994, pp. 541-544
IDENTIFICATION OF 3 RARE FRAMESHIFT MUTATIONS IN EXON 13 OF THE CYSTIC-FIBROSIS GENE - 1918DELGC, 2118DEL4 AND 2372DEL8
Authors: CHEVALIERPORST F MATHIEU M BOZON D
Citation: F. Chevalierporst et al., IDENTIFICATION OF 3 RARE FRAMESHIFT MUTATIONS IN EXON 13 OF THE CYSTIC-FIBROSIS GENE - 1918DELGC, 2118DEL4 AND 2372DEL8, Human molecular genetics, 2(7), 1993, pp. 1071-1072
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