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Results: 1-9 |
Results: 9
BIOSYNTHESIS AND INTRACELLULAR TARGETING OF THE CLN3 PROTEIN DEFECTIVE IN BATTEN-DISEASE
Authors: JARVELA I SAINIO M RANTAMAKI T OLKKONEN VM CARPEN O PELTONEN L JALANKO A
Citation: I. Jarvela et al., BIOSYNTHESIS AND INTRACELLULAR TARGETING OF THE CLN3 PROTEIN DEFECTIVE IN BATTEN-DISEASE, Human molecular genetics, 7(1), 1998, pp. 85-90
MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE
Authors: COLLODBEROUD G BEROUD C ADES L BLACK C BOXER M BROCKS DJH HOLMAN KJ DEPAEPE A FRANCKE U GRAU U HAYWARD C KLEIN HG LIU WG NUYTINCK L PELTONEN L PEREZ ABA RANTAMAKI T JUNIEN C BOILEAU C
Citation: G. Collodberoud et al., MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE, Nucleic acids research, 26(1), 1998, pp. 229-233
BADLY ENGINEERED FIBRILLIN - LESSONS FROM MOLECULAR STUDIES OF MARFAN-SYNDROME
Authors: RANTAMAKI T KARTTUNEN L PELTONEN L
Citation: T. Rantamaki et al., BADLY ENGINEERED FIBRILLIN - LESSONS FROM MOLECULAR STUDIES OF MARFAN-SYNDROME, Trends in cardiovascular medicine, 7(8), 1997, pp. 282-288
BIOSYNTHESIS AND SUBCELLULAR-LOCALIZATION OF THE CLN3 PROTEIN DEFECTIVE IN BATTEN-DISEASE
Authors: JARVELA IE SAINIO M RANTAMAKI T OLKKONEN V CARPEN O PELTONEN L JALANKO A
Citation: Ie. Jarvela et al., BIOSYNTHESIS AND SUBCELLULAR-LOCALIZATION OF THE CLN3 PROTEIN DEFECTIVE IN BATTEN-DISEASE, American journal of human genetics, 61(4), 1997, pp. 1469-1469
STUDYING THE CONSEQUENCES OF NMFS MUTATIONS USING AN IN-VITRO MODEL
Authors: RANTAMAKI T KARTTUNEN L KIELTY CM PELTONEN L
Citation: T. Rantamaki et al., STUDYING THE CONSEQUENCES OF NMFS MUTATIONS USING AN IN-VITRO MODEL, Matrix biology, 15(3), 1996, pp. 173-173
A POINT MUTATION CREATING AN EXTRA N-GLYCOSYLATION SITE IN FIBRILLIN-1 RESULTS IN NEONATAL MARFAN-SYNDROME
Authors: LONNQVIST L KARTTUNEN L RANTAMAKI T KIELTY C RAGHUNATH M PELTONEN L
Citation: L. Lonnqvist et al., A POINT MUTATION CREATING AN EXTRA N-GLYCOSYLATION SITE IN FIBRILLIN-1 RESULTS IN NEONATAL MARFAN-SYNDROME, Genomics, 36(3), 1996, pp. 468-475
PRENATAL-DIAGNOSIS OF MARFAN-SYNDROME - IDENTIFICATION OF A FIBRILLIN-1 MUTATION IN CHORIONIC VILLUS SAMPLE
Authors: RANTAMAKI T RAGHUNATH M KARTTUNEN L LONNQVIST L CHILD A PELTONEN L
Citation: T. Rantamaki et al., PRENATAL-DIAGNOSIS OF MARFAN-SYNDROME - IDENTIFICATION OF A FIBRILLIN-1 MUTATION IN CHORIONIC VILLUS SAMPLE, Prenatal diagnosis, 15(12), 1995, pp. 1176-1181
CYSTEINE-TO-ARGININE POINT MUTATION IN A HYBRID 8-CYSTEINE DOMAIN OF FBN1 - CONSEQUENCES FOR FIBRILLIN AGGREGATION AND MICROFIBRIL ASSEMBLY
Authors: KIELTY CM RANTAMAKI T CHILD AH SHUTTLEWORTH CA PELTONEN L
Citation: Cm. Kielty et al., CYSTEINE-TO-ARGININE POINT MUTATION IN A HYBRID 8-CYSTEINE DOMAIN OF FBN1 - CONSEQUENCES FOR FIBRILLIN AGGREGATION AND MICROFIBRIL ASSEMBLY, Journal of Cell Science, 108, 1995, pp. 1317-1323
1ST CLUES TO THE GENOTYPE-PHENOTYPE CORRELATION IN MARFAN-SYNDROME
Authors: PELTONEN L KAINULAINEN K KARTTUNEN L LONNQVIST L RANTAMAKI T
Citation: L. Peltonen et al., 1ST CLUES TO THE GENOTYPE-PHENOTYPE CORRELATION IN MARFAN-SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1210-1210
Risultati: 1-9 |