ARH missense polymorphisms and plasma cholesterol levels
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| 024 | 7 | 0 | |a 10.1515/CCLM.2004.200 |2 doi |
| 035 | |a (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.200 | ||
| 245 | 0 | 0 | |a ARH missense polymorphisms and plasma cholesterol levels |h [Elektronische Daten] |c [Jaroslav A. Hubacek, Tommy Hyatt] |
| 520 | 3 | |a Mutations in a putative low-density lipoprotein (LDL) receptor adaptor protein called ARH have been recently described in patients with autosomal recessive hypercholesterolemia (ARH). ARH plays a tissue-specific role in determination of LDL receptor function. In the ARH gene three mismatched polymorphisms have been detected: Pro202Ser, Pro202His and Arg238Trp. These are of putative interest in plasma cholesterol level determination. To evaluate the effect of polymorphisms on plasma cholesterol levels, all polymorphisms were analyzed by PCR and restriction enzyme analysis by MnlI, HpyCH4IV and SacII in 100 Caucasian males with high (>90%, 6.29 ± 0.89 mmol/l), and 100 males with low (<10%, 3.60 ± 0.57 mmol/l), total plasma cholesterol levels. No significant differences were observed in frequencies of ARH genotypes or alleles between these two extreme groups. These results suggest that ARH polymorphisms are unlikely to be important genetic determinants of plasma cholesterol levels. | |
| 540 | |a © Walter de Gruyter | ||
| 690 | 7 | |a Medical equipment & techniques |2 nationallicence | |
| 690 | 7 | |a Medical diagnosis |2 nationallicence | |
| 690 | 7 | |a Diseases & disorders |2 nationallicence | |
| 690 | 7 | |a ARH |2 nationallicence | |
| 690 | 7 | |a cholesterol |2 nationallicence | |
| 690 | 7 | |a polymorphism |2 nationallicence | |
| 700 | 1 | |a Hubacek |D Jaroslav A. |u Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA; Institute of Clinical and Experimental Medicine, Centre for Experimental Medicine and Centre for Experimental Cardiovascular Research, Prague, Czech Republic |4 aut | |
| 700 | 1 | |a Hyatt |D Tommy |u Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA |4 aut | |
| 773 | 0 | |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 42/9(2004-09-01), 989-990 |x 1434-6621 |q 42:9<989 |1 2004 |2 42 |o cclm | |
| 856 | 4 | 0 | |u https://doi.org/10.1515/CCLM.2004.200 |q text/html |z Onlinezugriff via DOI |
| 908 | |D 1 |a research article |2 jats | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1515/CCLM.2004.200 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Hubacek |D Jaroslav A. |u Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA; Institute of Clinical and Experimental Medicine, Centre for Experimental Medicine and Centre for Experimental Cardiovascular Research, Prague, Czech Republic |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Hyatt |D Tommy |u Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 42/9(2004-09-01), 989-990 |x 1434-6621 |q 42:9<989 |1 2004 |2 42 |o cclm | ||
| 900 | 7 | |b CC0 |u http://creativecommons.org/publicdomain/zero/1.0 |2 nationallicence | |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-gruyter | ||