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Results: 1-8 |
Results: 8
FAMILIAL HYPERCHOLESTEROLEMIA - POTENTIAL DIAGNOSTIC-VALUE OF MUTATION SCREENING IN A PEDIATRIC POPULATION OF SOUTH-AFRICA
Authors: KOTZE MJ PEETERS AV LOUBSER O THEART L DUPLESSIS L HAYES VM DEJONG G DEVILLIERS JNP LOMBARD CJ HANSEN PS RAAL FJ
Citation: Mj. Kotze et al., FAMILIAL HYPERCHOLESTEROLEMIA - POTENTIAL DIAGNOSTIC-VALUE OF MUTATION SCREENING IN A PEDIATRIC POPULATION OF SOUTH-AFRICA, Clinical genetics, 54(1), 1998, pp. 74-78
CPG HOTSPOT MUTATIONS AT THE LDL RECEPTOR LOCUS ARE A FREQUENT CAUSE OF FAMILIAL HYPERCHOLESTEROLEMIA AMONG SOUTH-AFRICAN INDIANS
Authors: KOTZE MJ LOUBSER O THIART R DEVILLIERS JNP LANGENHOVEN E THEART L STEYN K MARAIS AD RAAL FJ
Citation: Mj. Kotze et al., CPG HOTSPOT MUTATIONS AT THE LDL RECEPTOR LOCUS ARE A FREQUENT CAUSE OF FAMILIAL HYPERCHOLESTEROLEMIA AMONG SOUTH-AFRICAN INDIANS, Clinical genetics, 51(6), 1997, pp. 394-398
A DE-NOVO DUPLICATION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE
Authors: KOTZE MJ THEART L PEETERS A LANGENHOVEN E
Citation: Mj. Kotze et al., A DE-NOVO DUPLICATION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE, Human mutation, 6(2), 1995, pp. 181-183
NONRADIOACTIVE MULTIPLEX PCR SCREENING STRATEGY FOR THE SIMULTANEOUS DETECTION OF MULTIPLE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS
Authors: KOTZE MJ THEART L CALLIS M PEETERS AV THIART R LANGENHOVEN E
Citation: Mj. Kotze et al., NONRADIOACTIVE MULTIPLEX PCR SCREENING STRATEGY FOR THE SIMULTANEOUS DETECTION OF MULTIPLE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS, PCR methods and applications, 4(6), 1995, pp. 352-356
2 NOVEL FRAMESHIFT MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE GENERATED BY ENDOGENOUS SEQUENCE-DIRECTED MECHANISMS
Authors: PEETERS AV VANGAAL LF THEART L LANGENHOVEN E KOTZE MJ
Citation: Av. Peeters et al., 2 NOVEL FRAMESHIFT MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE GENERATED BY ENDOGENOUS SEQUENCE-DIRECTED MECHANISMS, Human genetics, 96(4), 1995, pp. 401-406
RECURRENT LDL-RECEPTOR MUTATION CAUSES FAMILIAL HYPERCHOLESTEROLEMIA IN SOUTH-AFRICAN COLOUREDS AND AFRIKANERS
Authors: KOTZE MJ LANGENHOVEN E THEART L LOUBSER O MICKLEM A OOSTHUIZEN CJJ
Citation: Mj. Kotze et al., RECURRENT LDL-RECEPTOR MUTATION CAUSES FAMILIAL HYPERCHOLESTEROLEMIA IN SOUTH-AFRICAN COLOUREDS AND AFRIKANERS, South African medical journal, 85(5), 1995, pp. 357-361
SCREENING FOR MUTATIONS IN EXON-4 OF THE LDL RECEPTOR GENE - IDENTIFICATION OF A NEW DELETION MUTATION
Authors: THEART L KOTZE MJ LANGENHOVEN E LOUBSER O PEETERS AV LINTOTT CJ SCOTT RS
Citation: L. Theart et al., SCREENING FOR MUTATIONS IN EXON-4 OF THE LDL RECEPTOR GENE - IDENTIFICATION OF A NEW DELETION MUTATION, Journal of Medical Genetics, 32(5), 1995, pp. 379-382
DETECTION OF 2 POINT MUTATIONS CAUSING FAMILIAL DEFECTIVE APOLIPOPROTEIN-B-100 BY HETERODUPLEX ANALYSIS
Authors: KOTZE MJ LANGENHOVEN E PEETERS AV THEART L OOSTHUIZEN CJJ
Citation: Mj. Kotze et al., DETECTION OF 2 POINT MUTATIONS CAUSING FAMILIAL DEFECTIVE APOLIPOPROTEIN-B-100 BY HETERODUPLEX ANALYSIS, Molecular and cellular probes, 8(6), 1994, pp. 513-518
Risultati: 1-8 |