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Results: 1-9 |
Results: 9
LOW BETA-GLUCURONIDASE ENZYME-ACTIVITY AND MUTATIONS IN THE HUMAN BETA-GLUCURONIDASE GENE IN MILD MUCOPOLYSACCHARIDOSIS TYPE-VII, PSEUDODEFICIENCY AND A HETEROZYGOTE
Authors: VERVOORT R GITZELMANN R BOSSHARD N MAIRE I LIEBAERS I LISSENS W
Citation: R. Vervoort et al., LOW BETA-GLUCURONIDASE ENZYME-ACTIVITY AND MUTATIONS IN THE HUMAN BETA-GLUCURONIDASE GENE IN MILD MUCOPOLYSACCHARIDOSIS TYPE-VII, PSEUDODEFICIENCY AND A HETEROZYGOTE, Human genetics, 102(1), 1998, pp. 69-78
MOLECULAR ANALYSIS OF THE BETA-GLUCURONIDASE GENE - NOVEL MUTATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-VII AND HETEROGENEITY OF THE POLYADENYLATION REGION
Authors: VERVOORT R BUIST NRM KLEIJER WJ WEVERS R FRYNS JP LIEBAERS I LISSENS W
Citation: R. Vervoort et al., MOLECULAR ANALYSIS OF THE BETA-GLUCURONIDASE GENE - NOVEL MUTATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-VII AND HETEROGENEITY OF THE POLYADENYLATION REGION, Human genetics, 99(4), 1997, pp. 462-468
BETA-GLUCURONIDASE P408S, P415L MUTATIONS - EVIDENCE THAT BOTH MUTATIONS COMBINE TO PRODUCE AN MPS-VII ALLELE IN CERTAIN MEXICAN PATIENTS
Authors: ISLAM MR VERVOORT R LISSENS W HOO JJ VALENTINO LA SLY WS
Citation: Mr. Islam et al., BETA-GLUCURONIDASE P408S, P415L MUTATIONS - EVIDENCE THAT BOTH MUTATIONS COMBINE TO PRODUCE AN MPS-VII ALLELE IN CERTAIN MEXICAN PATIENTS, Human genetics, 98(3), 1996, pp. 281-284
LOCALIZATION BY FLUORESCENCE IN-SITU HYBRIDIZATION OF THE HUMAN FUNCTIONAL BETA-GLUCURONIDASE GENE (GUSB) TO 7Q11.21-]Q11.22 AND 2 PSEUDOGENES TO 5P13 AND 5Q13
Authors: SPELEMAN F VERVOORT R VANROY N LIEBAERS I SLY WS LISSENS W
Citation: F. Speleman et al., LOCALIZATION BY FLUORESCENCE IN-SITU HYBRIDIZATION OF THE HUMAN FUNCTIONAL BETA-GLUCURONIDASE GENE (GUSB) TO 7Q11.21-]Q11.22 AND 2 PSEUDOGENES TO 5P13 AND 5Q13, Cytogenetics and cell genetics, 72(1), 1996, pp. 53-55
A D255H SUBSTITUTION IN THE ARYLSULFATASE-A GENE OF 2 UNRELATED BELGIAN PATIENTS WITH LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY
Authors: LISSENS W VERVOORT R VANREGEMORTER N VANBOGAERT P FREUND M VERELLENDUMOULIN C SENECA S LIEBAERS I
Citation: W. Lissens et al., A D255H SUBSTITUTION IN THE ARYLSULFATASE-A GENE OF 2 UNRELATED BELGIAN PATIENTS WITH LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY, Journal of inherited metabolic disease, 19(6), 1996, pp. 782-786
MOLECULAR ANALYSIS OF PATIENTS WITH BETA-GLUCURONIDASE DEFICIENCY PRESENTING AS HYDROPS-FETALIS OR AS EARLY MUCOPOLYSACCHARIDOSIS-VII
Authors: VERVOORT R ISLAM MR SLY WS ZABOT MT KLEIJER WJ CHABAS A FENSOM A YOUNG EP LIEBAERS I LISSENS W
Citation: R. Vervoort et al., MOLECULAR ANALYSIS OF PATIENTS WITH BETA-GLUCURONIDASE DEFICIENCY PRESENTING AS HYDROPS-FETALIS OR AS EARLY MUCOPOLYSACCHARIDOSIS-VII, American journal of human genetics, 58(3), 1996, pp. 457-471
A PSEUDODEFICIENCY ALLELE (D152N) OF THE HUMAN BETA-GLUCURONIDASE GENE
Authors: VERVOORT R ISLAM MR SLY W CHABAS A WEVERS R DEJONG J LIEBAERS I LISSENS W
Citation: R. Vervoort et al., A PSEUDODEFICIENCY ALLELE (D152N) OF THE HUMAN BETA-GLUCURONIDASE GENE, American journal of human genetics, 57(4), 1995, pp. 798-804
ANTITHROMBIN-GLY-424 ARG - A NOVEL POINT MUTATION RESPONSIBLE FOR TYPE-1 ANTITHROMBIN DEFICIENCY AND NEONATAL THROMBOSIS
Authors: JOCHMANS K LISSENS W VERVOORT R PEETERS S DEWAELE M LIEBAERS I
Citation: K. Jochmans et al., ANTITHROMBIN-GLY-424 ARG - A NOVEL POINT MUTATION RESPONSIBLE FOR TYPE-1 ANTITHROMBIN DEFICIENCY AND NEONATAL THROMBOSIS, Blood, 83(1), 1994, pp. 146-151
MOLECULAR ANALYSIS OF A PATIENT WITH HYDROPS-FETALIS CAUSED BY BETA-GLUCURONIDASE DEFICIENCY, AND EVIDENCE FOR ADDITIONAL PSEUDOGENES
Authors: VERVOORT R LISSENS W LIEBAERS I
Citation: R. Vervoort et al., MOLECULAR ANALYSIS OF A PATIENT WITH HYDROPS-FETALIS CAUSED BY BETA-GLUCURONIDASE DEFICIENCY, AND EVIDENCE FOR ADDITIONAL PSEUDOGENES, Human mutation, 2(6), 1993, pp. 443-445
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