Zobrazeno 1 - 10
of 79
pro vyhledávání: '"H G Kraft"'
Autor:
Y Y van der Hoek, R J Wanders, A E van den Ende, H G Kraft, B R Gabel, J J Kastelein, M L Koschinsky
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 8, Pp 1612-1619 (1997)
Peroxisomal disorders arise either from defects in the biogenesis of peroxisomes or from the defective synthesis of one or more peroxisomal enzymes. These defects result in metabolic disturbances in peroxisomal beta-oxidation of various fatty acids a
Externí odkaz:
https://doaj.org/article/1ea84fc30a2b4cd1a3ce84d902af22d8
Autor:
S Bopp, S Köchl, F Acquati, P Magnaghi, A Pethö-Schramm, H G Kraft, G Utermann, H J Müller, R Taramelli
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 8, Pp 1721-1728 (1995)
Plasma levels of the atherogenic lipoprotein[a] represent a quantitative genetic trait that is primarily controlled by the polymorphic apolipoprotein[a] locus on chromosome 6q. The more than 1000-fold variation in lipoprotein[a] plasma levels is expl
Externí odkaz:
https://doaj.org/article/da0636c2c58340dabda510a278acaad7
Autor:
Massimiliano Rossi, M Giros, M Gruber, M Krajewska-Walasek, Gerd Utermann, Peter E. Clayton, Dorothea Haas, H. G. Kraft, Martina Witsch-Baumgartner, Richard I. Kelley
Publikováno v:
Scopus-Elsevier
BACKGROUND: Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ab1e544c89c89473c25d8b291de0fe1
https://doi.org/10.1136/jmg.2004.018085
https://doi.org/10.1136/jmg.2004.018085
Autor:
Hartmut Glossmann, Georg F. Hoffmann, Peter Clayton, Richard I. Kelley, F. F. Moebius, Barbara U. Fitzky, Udo Seedorf, G. Gillessen-Kaesbach, Martina Witsch-Baumgartner, M. Ogorelkova, H. G. Kraft, Gerd Utermann
Publikováno v:
The American Journal of Human Genetics. 66:402-412
SummarySmith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in clinical severity from mild dysmorphism and moderate mental retardation to severe congenital malformation and intrauterine lethality. Mutations in the g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2a9159f9ce24bbd3389725e5a95313b
https://doi.org/10.1086/302760
https://doi.org/10.1086/302760
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 20:522-528
Abstract —Lipoprotein(a) [Lp(a)] is a quantitative genetic trait that in the general population is largely controlled by 1 major locus—the locus for the apolipoprotein(a) [apo(a)] gene. Sibpair studies in families including familial defective apo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6790492ff43886ff8949d8a0b84477f8
https://doi.org/10.1161/01.atv.20.2.522
https://doi.org/10.1161/01.atv.20.2.522
Publikováno v:
International journal of legal medicine. 116(3)
Allele frequencies for ten short tandem repeat (STR) loci D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01 and FGA were determined in a Black African sample population from Gabon. All loci were highly polymorphic and except for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d00e0f3f73ceb1375d8647ec5005c9fe
https://pubmed.ncbi.nlm.nih.gov/12111323
https://pubmed.ncbi.nlm.nih.gov/12111323
Publikováno v:
Journal of lipid research. 41(5)
Two novel mutations in the lipoprotein lipase (LPL) gene are described in an Austrian family: a splice site mutation in intron 1 (3 bp deletion of nucleotides -2 to -4) which results in skipping of exon 2, and a missense mutation in exon 5 which caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc6b8c5f621aa3ca200e988428359801
https://pubmed.ncbi.nlm.nih.gov/10787434
https://pubmed.ncbi.nlm.nih.gov/10787434
Autor:
H. G. Kraft
Publikováno v:
From Molecule to Men ISBN: 9783642633386
Lipoprotein(a) [Lp(a)] is a complex in human plasma consisting of an LDL particle to which a glycoprotein designated apolipoprotein(a) [apo(a)] is bound via a disulfide bridge. High levels of lipoprotein(a) are considered as genetic risk factor for p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53b445d93a1babd7685fc18ebb240b80
https://doi.org/10.1007/978-3-642-57724-6_12
https://doi.org/10.1007/978-3-642-57724-6_12
Publikováno v:
Clinical Chemistry. 37:576-578
We describe a modified immunoblotting method for phenotyping lipoprotein(a) [Lp(a)]. This immunoblotting procedure uses commercially available reagents that have a long shelf life. The method is sensitive and takes only 18 microL of sera. Lp(a) pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2d104bee9b1c0e69d3c27d54c7fda91
https://doi.org/10.1093/clinchem/37.4.576
https://doi.org/10.1093/clinchem/37.4.576
Publikováno v:
European journal of human genetics : EJHG. 6(1)
Lipoprotein(a) (Lp(a)) is a complex in human plasma assembled from low-density lipoprotein (LDL) and apolipoprotein(a) (apo(a)). High plasma concentrations of Lp(a) are a risk factor for coronary heart disease (CHD) in particular in patients with con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a50688630faa3ccecc16a361a307bd5c
https://pubmed.ncbi.nlm.nih.gov/9781014
https://pubmed.ncbi.nlm.nih.gov/9781014