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Results: 1-9 |
Results: 9
PARTIAL RECONSTITUTION OF FACTOR-VIII ACTIVITY FROM A MILD CRM(-A PATIENT BY REPLACEMENT OF THE DEFECTIVE A2 DOMAIN() HEMOPHILIA)
Authors: PIENEMAN WC FAY P BRIET E REITSMA PH BERTINA RM
Citation: Wc. Pieneman et al., PARTIAL RECONSTITUTION OF FACTOR-VIII ACTIVITY FROM A MILD CRM(-A PATIENT BY REPLACEMENT OF THE DEFECTIVE A2 DOMAIN() HEMOPHILIA), Thrombosis and haemostasis, 79(5), 1998, pp. 943-948
FACTOR-VIII ANTIGEN IN A PATIENT AFFECTED BY SEVERE HEMOPHILIA-A WHO HAS THE INVERSION IN THE FACTOR-VIII GENE
Authors: PIENEMAN WC VANTILBURG NH REITSMA PH BRIET E
Citation: Wc. Pieneman et al., FACTOR-VIII ANTIGEN IN A PATIENT AFFECTED BY SEVERE HEMOPHILIA-A WHO HAS THE INVERSION IN THE FACTOR-VIII GENE, Thrombosis and haemostasis, 73(6), 1995, pp. 1223-1223
INVERSIONS IN THE FACTOR-VIII GENE - IMPROVEMENT OF CARRIER DETECTIONAND PRENATAL-DIAGNOSIS IN DUTCH HEMOPHILIA-A FAMILIES
Authors: DEUTZTERLOUW PP LOSEKOOT M OLMER R PIENEMAN WC DEVRIESVANDERWEERD S BRIET E BAKKER E
Citation: Pp. Deutzterlouw et al., INVERSIONS IN THE FACTOR-VIII GENE - IMPROVEMENT OF CARRIER DETECTIONAND PRENATAL-DIAGNOSIS IN DUTCH HEMOPHILIA-A FAMILIES, Journal of Medical Genetics, 32(4), 1995, pp. 296-300
SCREENING FOR MUTATIONS IN HEMOPHILIA-A PATIENTS BY MULTIPLEX PCR-SSCP, SOUTHERN BLOTTING AND RNA ANALYSIS - THE DETECTION OF A GENETIC ABNORMALITY IN THE FACTOR-VIII GENE IN 30 OUT OF 35 PATIENTS
Authors: PIENEMAN WC DEUTZTERLOUW PP REITSMA PH BRIET E
Citation: Wc. Pieneman et al., SCREENING FOR MUTATIONS IN HEMOPHILIA-A PATIENTS BY MULTIPLEX PCR-SSCP, SOUTHERN BLOTTING AND RNA ANALYSIS - THE DETECTION OF A GENETIC ABNORMALITY IN THE FACTOR-VIII GENE IN 30 OUT OF 35 PATIENTS, British Journal of Haematology, 90(2), 1995, pp. 442-449
11 NOVEL MUTATIONS IN THE FACTOR-VIII GENE FROM BRAZILIAN HEMOPHILIA-A PATIENTS
Authors: ARRUDA VR PIENEMAN WC REITSMA PH DEUTZTERLOUW PP ANNICHINOBIZZACCHI JM BRIET E COSTA FF
Citation: Vr. Arruda et al., 11 NOVEL MUTATIONS IN THE FACTOR-VIII GENE FROM BRAZILIAN HEMOPHILIA-A PATIENTS, Blood, 86(8), 1995, pp. 3015-3020
12 NOVEL MUTATIONS IN FACTOR-VIII GENE FROM BRAZILIAN HEMOPHILIA-A PATIENTS
Authors: ARRUDA VR PIENEMAN WC DEUTZTERLOUW P ANNICHINOBIZZACCHI JM BRIET E REITSMA PH COSTA FF
Citation: Vr. Arruda et al., 12 NOVEL MUTATIONS IN FACTOR-VIII GENE FROM BRAZILIAN HEMOPHILIA-A PATIENTS, Blood, 84(10), 1994, pp. 10000061-10000061
MULTIPLEX PCR SSCP AND DSCP IS AN EFFECTIVE SCREENING METHOD FOR MUTATIONS IN THE FACTOR-VIII GENE
Authors: PIENEMAN WC REITSMA PH BRIET E
Citation: Wc. Pieneman et al., MULTIPLEX PCR SSCP AND DSCP IS AN EFFECTIVE SCREENING METHOD FOR MUTATIONS IN THE FACTOR-VIII GENE, Thrombosis and haemostasis, 69(6), 1993, pp. 844-844
A SOMATIC MOSAIC GRANDFATHER WAS IDENTIFIED BY MUTATION ANALYSIS IN AFAMILY OF A SEVERE HEMOPHILIA-A PATIENT
Authors: PIENEMAN WC REITSMA PH BRIET E
Citation: Wc. Pieneman et al., A SOMATIC MOSAIC GRANDFATHER WAS IDENTIFIED BY MUTATION ANALYSIS IN AFAMILY OF A SEVERE HEMOPHILIA-A PATIENT, Thrombosis and haemostasis, 69(6), 1993, pp. 845-845
DOUBLE-STRAND CONFORMATION POLYMORPHISM (DSCP) DETECTS 2 POINT MUTATIONS AT CODON-280 (AAC-]ATC) AND AT CODON-431 (TAC-]AAC) OF THE BLOOD-COAGULATION FACTOR-VIII GENE
Authors: PIENEMAN WC REITSMA PH BRIET E
Citation: Wc. Pieneman et al., DOUBLE-STRAND CONFORMATION POLYMORPHISM (DSCP) DETECTS 2 POINT MUTATIONS AT CODON-280 (AAC-]ATC) AND AT CODON-431 (TAC-]AAC) OF THE BLOOD-COAGULATION FACTOR-VIII GENE, Thrombosis and haemostasis, 69(5), 1993, pp. 473-475
Risultati: 1-9 |