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Results: 1-13 |
Results: 13
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
2 NOVEL POINT MUTATIONS CAUSING RECEPTOR-NEGATIVE FAMILIAL HYPERCHOLESTEROLEMIA IN A SOUTH-AFRICAN INDIAN HOMOZYGOTE
Authors: LANGENHOVEN E WARNICH L THIART R RUBINSZTEIN DC VANDERWESTHUYZEN DR MARAIS AD KOTZE MJ
Citation: E. Langenhoven et al., 2 NOVEL POINT MUTATIONS CAUSING RECEPTOR-NEGATIVE FAMILIAL HYPERCHOLESTEROLEMIA IN A SOUTH-AFRICAN INDIAN HOMOZYGOTE, Atherosclerosis, 125(1), 1996, pp. 111-119
FH AFRIKANER-3 LDL RECEPTOR MUTATION RESULTS IN DEFECTIVE LDL RECEPTORS AND CAUSES A MILD FORM OF FAMILIAL HYPERCHOLESTEROLEMIA
Authors: VANROGGEN JFG VANDERWESTHUYZEN DR COETZEE GA MARAIS AD STEYN K LANGENHOVEN E KOTZE MJ
Citation: Jfg. Vanroggen et al., FH AFRIKANER-3 LDL RECEPTOR MUTATION RESULTS IN DEFECTIVE LDL RECEPTORS AND CAUSES A MILD FORM OF FAMILIAL HYPERCHOLESTEROLEMIA, Arteriosclerosis, thrombosis, and vascular biology, 15(6), 1995, pp. 765-772
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
FAMILIAL DEFECTIVE APOLIPOPROTEIN-B IS RARE IN HYPERCHOLESTEROLEMIC SOUTH-AFRICAN AFRIKANERS, COLOUREDS AND INDIANS
Authors: RUBINSZTEIN DC COETZEE GA VANDERWESTHUYZEN DR LANGENHOVEN E KOTZE MJ
Citation: Dc. Rubinsztein et al., FAMILIAL DEFECTIVE APOLIPOPROTEIN-B IS RARE IN HYPERCHOLESTEROLEMIC SOUTH-AFRICAN AFRIKANERS, COLOUREDS AND INDIANS, South African medical journal, 85(5), 1995, pp. 355-357
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
PHENOTYPIC-EXPRESSION AND FREQUENCY OF FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100 IN BELGIAN HYPERCHOLESTEROLEMICS
Authors: KOTZE MJ PEETERS AV LANGENHOVEN E WAUTERS JG VANGAAL LF
Citation: Mj. Kotze et al., PHENOTYPIC-EXPRESSION AND FREQUENCY OF FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100 IN BELGIAN HYPERCHOLESTEROLEMICS, Atherosclerosis, 111(2), 1994, pp. 217-225
PHENOTYPIC VARIATION AMONG FAMILIAL HYPERCHOLESTEROLEMICS HETEROZYGOUS FOR EITHER ONE OF 2 AFRIKANER FOUNDER LDL RECEPTOR MUTATIONS
Authors: KOTZE MJ DEVILLIERS WJS STEYN K KRIEK JA MARAIS AD LANGENHOVEN E HERBERT JS VANROGGEN JFG VANDERWESTHUYZEN DR COETZEE GA
Citation: Mj. Kotze et al., PHENOTYPIC VARIATION AMONG FAMILIAL HYPERCHOLESTEROLEMICS HETEROZYGOUS FOR EITHER ONE OF 2 AFRIKANER FOUNDER LDL RECEPTOR MUTATIONS, Arteriosclerosis and thrombosis, 13(10), 1993, pp. 1460-1468
INTRAFAMILIAL VARIABILITY IN THE CLINICAL EXPRESSION OF FAMILIAL HYPERCHOLESTEROLEMIA - IMPORTANCE OF RISK FACTOR DETERMINATION FOR GENETIC-COUNSELING
Authors: KOTZE MJ DAVIS HJ BISSBORT S LANGENHOVEN E BRUSNICKY J OOSTHUIZEN CJJ
Citation: Mj. Kotze et al., INTRAFAMILIAL VARIABILITY IN THE CLINICAL EXPRESSION OF FAMILIAL HYPERCHOLESTEROLEMIA - IMPORTANCE OF RISK FACTOR DETERMINATION FOR GENETIC-COUNSELING, Clinical genetics, 43(6), 1993, pp. 295-299
Risultati: 1-13 |