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Results: 1-9 |
Results: 9
MOLECULAR ANALYSIS REVEALS A HIGH MUTATION FREQUENCY IN THE FIRST UNTRANSLATED EXON OF THE PPOX GENE AND LARGELY EXCLUDES VARIEGATE PORPHYRIA IN A SUBSET OF CLINICALLY AFFECTED AFRIKANER FAMILIES
Authors: KOTZE MJ DEVILLIERS JNP GROENEWALD JZ ROONEY RN LOUBSER O THIART R OOSTHUIZEN CJJ VANNIEKERK MM GROENEWALD IM RETIEF AE WARNICH L
Citation: Mj. Kotze et al., MOLECULAR ANALYSIS REVEALS A HIGH MUTATION FREQUENCY IN THE FIRST UNTRANSLATED EXON OF THE PPOX GENE AND LARGELY EXCLUDES VARIEGATE PORPHYRIA IN A SUBSET OF CLINICALLY AFFECTED AFRIKANER FAMILIES, Molecular and cellular probes, 12(5), 1998, pp. 293-300
A NONSENSE MUTATION (ARG-196-TERM) IN EXON-6 OF THE HUMAN TP53 GENE IDENTIFIED IN SMALL-CELL LUNG-CARCINOMA
Authors: HAYES VM OOSTHUIZEN CJJ KOTZE MJ MARX MP BUYS CHCM
Citation: Vm. Hayes et al., A NONSENSE MUTATION (ARG-196-TERM) IN EXON-6 OF THE HUMAN TP53 GENE IDENTIFIED IN SMALL-CELL LUNG-CARCINOMA, Molecular and cellular probes, 10(5), 1996, pp. 393-395
A NOVEL DELETION AT CODON-441 OF THE APC GENE ASSOCIATED WITH OPHTHALMIC LESIONS (CHRPE) IN A SOUTH-AFRICAN FAMILY
Authors: GROBBELAAR JJ ZISKIND A DEJONG G OOSTHUIZEN CJJ KOTZE MJ
Citation: Jj. Grobbelaar et al., A NOVEL DELETION AT CODON-441 OF THE APC GENE ASSOCIATED WITH OPHTHALMIC LESIONS (CHRPE) IN A SOUTH-AFRICAN FAMILY, Journal of Medical Genetics, 33(5), 1996, pp. 384-386
SCREENING SOUTH-AFRICAN FAMILIAL ADENOMATOUS POLYPOSIS FAMILIES FOR THE 5-NUCLEOTIDE DELETION AT CODON-1309 OF THE APC GENE
Authors: GROBBELAAR LJ OOSTHUIZEN CJJ KOTZE MJ
Citation: Lj. Grobbelaar et al., SCREENING SOUTH-AFRICAN FAMILIAL ADENOMATOUS POLYPOSIS FAMILIES FOR THE 5-NUCLEOTIDE DELETION AT CODON-1309 OF THE APC GENE, Molecular and cellular probes, 9(1), 1995, pp. 49-51
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
THE USE OF DNA MARKERS IN THE PRECLINICAL DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS IN FAMILIES IN SOUTH-AFRICA
Authors: GROBBELAAR JJ OOSTHUIZEN CJJ MADDEN MV BAILEY SE RETIEF AE KOTZE MJ
Citation: Jj. Grobbelaar et al., THE USE OF DNA MARKERS IN THE PRECLINICAL DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS IN FAMILIES IN SOUTH-AFRICA, South African medical journal, 85(4), 1995, pp. 269-271
FLUORESCENT IN-SITU HYBRIDIZATION EVALUATION OF HUMAN Y-BEARING SPERMATOZOA SEPARATED BY ALBUMIN DENSITY GRADIENTS
Authors: CLAASSENS OE OOSTHUIZEN CJJ BRUSNICKY J FRANKEN DR KRUGER TF
Citation: Oe. Claassens et al., FLUORESCENT IN-SITU HYBRIDIZATION EVALUATION OF HUMAN Y-BEARING SPERMATOZOA SEPARATED BY ALBUMIN DENSITY GRADIENTS, Fertility and sterility, 63(2), 1995, pp. 417-418
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
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: 1-9 |