Die kombinierte familiäre Hyperlipämie ist eine Fettstoffwechselstörung, die sowohl erhöhte Cholesterin- als auch Triglyceridwerte aufweist. Die Vererbung ist dominant.
Auf dieser Seite wird eine funktionelle Gliederung dargestellt. Die differenzierte molekulargenetische Untersuchung der einzelnen am Fettstoffwechsel beteiligten Gene erblaubt aufgrund der bekannten Lokalisation und Funktion der von diesen Genen kodierten Proteine eine funktionielle Zusammefassung von Störungen die Synthese und Abbau in den verschiedenen Organen betreffen.
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Allayee H et al. (1998) Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. |
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Juo SH et al. (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. |
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Pajukanta P et al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. |
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13. |
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14. |
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16. |
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17. |
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18. |
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21. |
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22. |
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23. |
Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. |
24. |
Aouizerat BE et al. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. |
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Geurts JM et al. (2000) Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. |
26. |
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27. |
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28. |
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29. |
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30. |
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32. |
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OMIM.ORG article Omim 144250 |