AAAAAA

   
Results: 1-12 |
Results: 12
2 NOVEL AND 2 KNOWN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS IN GERMAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: THIART R LOUBSER O DEVILLIERS JNP MARX MP ZAIRE R RAAL FJ KOTZE MJ
Citation: R. Thiart et al., 2 NOVEL AND 2 KNOWN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS IN GERMAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 1998, pp. 232-233
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
MUTATION ANALYSIS IN FAMILIAL HYPERCHOLESTEROLEMIA PATIENTS OF DIFFERENT ANCESTRIES - IDENTIFICATION OF 3 NOVEL LDLR GENE-MUTATIONS
Authors: CALLIS M JANSEN S THIART R DEVILLIERS JNP RAAL FJ KOTZE MJ
Citation: M. Callis et al., MUTATION ANALYSIS IN FAMILIAL HYPERCHOLESTEROLEMIA PATIENTS OF DIFFERENT ANCESTRIES - IDENTIFICATION OF 3 NOVEL LDLR GENE-MUTATIONS, Molecular and cellular probes, 12(3), 1998, pp. 149-152
LDLR DATABASE (2ND EDITION) - NEW ADDITIONS TO THE DATABASE AND THE SOFTWARE, AND RESULTS OF THE FIRST MOLECULAR ANALYSIS
Authors: VARRET M RABES JP THIART R KOTZE MJ BARON H CENARRO A DESCAMPS O EBHARDT M HONDELIJN JC KOSTNER GM MIYAKE Y POCOVI M SCHMIDT H SCHMIDT H SCHUSTER H STUHRMANN M YAMAMURA T JUNIEN C BEROUD C BOILEAU C
Citation: M. Varret et al., LDLR DATABASE (2ND EDITION) - NEW ADDITIONS TO THE DATABASE AND THE SOFTWARE, AND RESULTS OF THE FIRST MOLECULAR ANALYSIS, Nucleic acids research, 26(1), 1998, pp. 248-252
NOVEL STOP MUTATION CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN A COSTA-RICAN FAMILY
Authors: THIART R LOUBSER O DEVILLIERS JNP SANTOS M KOTZE MJ
Citation: R. Thiart et al., NOVEL STOP MUTATION CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN A COSTA-RICAN FAMILY, Molecular and cellular probes, 11(6), 1997, pp. 457-458
A DOUBLE MUTANT LDL RECEPTOR ALLELE IN A CYPRIOT FAMILY WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Authors: KOTZE MJ DEVILLIERS JNP LOUBSER O THIART R SCHOLTZ CL RAAL FJ
Citation: Mj. Kotze et al., A DOUBLE MUTANT LDL RECEPTOR ALLELE IN A CYPRIOT FAMILY WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, Human genetics, 100(1), 1997, pp. 101-103
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
MUTATIONAL ANALYSIS OF THE PROMOTOR REGION OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE
Authors: SCHOLTZ CL PEETERS AV HOOGENDIJK CF THIART R DEVILLIERS JNP VANDERWESTHUYZEN DR STREIFF R LIU J KOTZE MJ
Citation: Cl. Scholtz et al., MUTATIONAL ANALYSIS OF THE PROMOTOR REGION OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE, American journal of human genetics, 61(4), 1997, pp. 2410-2410
MUTATION ANALYSIS REVEALS AN INSERTIONAL HOTSPOT IN EXON-4 OF THE LDLRECEPTOR GENE
Authors: KOTZE MJ THIART R LOUBSER O DEVILLIERS JNP SANTOS M VARGAS MA PEETERS AV
Citation: Mj. Kotze et al., MUTATION ANALYSIS REVEALS AN INSERTIONAL HOTSPOT IN EXON-4 OF THE LDLRECEPTOR GENE, Human genetics, 98(4), 1996, pp. 476-478
FIRST REPORT OF CFTR MUTATIONS IN BLACK CYSTIC-FIBROSIS PATIENTS OF SOUTHERN AFRICAN ORIGIN
Authors: CARLES S DESGEORGES M GOLDMAN A THIART R GUITTARD C KITAZOS CA DERAVEL TJL WESTWOOD ATR CLAUSTRES M RAMSEY M
Citation: S. Carles et al., FIRST REPORT OF CFTR MUTATIONS IN BLACK CYSTIC-FIBROSIS PATIENTS OF SOUTHERN AFRICAN ORIGIN, Journal of Medical Genetics, 33(9), 1996, pp. 802-804
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
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
Risultati: 1-12 |