ID
45376
Beschrijving
Principal Investigator: Nada Abumrad, PhD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Hypobetalipoproteinemias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000561 Hypobetalipoproteinemia is characterized by extremely low levels of low-density lipoprotein cholesterol. Familial hypobetalipoproteinemia (FHBL) is a monogenic form of hypobetalipoproteinemia caused by mutations in the APOB gene. There are cases of hypobetalipoproteinemia not caused by mutations in APOB, however. The purpose of this study is to identify novel genetic causes of hypobetalipoproteinemia.
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Versies (1)
- 04-11-22 04-11-22 - Chiara Middel
Houder van rechten
Nada Abumrad, PhD, Washington University School of Medicine, St. Louis, MO, USA
Geüploaded op
4 november 2022
DOI
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Licentie
Creative Commons BY 4.0
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dbGaP phs000561 Metabolism and Genetics of Hypobetalipoproteinemia
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