ID
45376
Description
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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Versions (1)
- 11/4/22 11/4/22 - Chiara Middel
Copyright Holder
Nada Abumrad, PhD, Washington University School of Medicine, St. Louis, MO, USA
Uploaded on
November 4, 2022
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Creative Commons BY 4.0
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dbGaP phs000561 Metabolism and Genetics of Hypobetalipoproteinemia
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Eligibility Criteria
C0020597 (UMLS CUI [1,2])
C1517194 (UMLS CUI [1,3])
C0522476 (UMLS CUI [1,4])
C0009932 (UMLS CUI [1,2])
C1517194 (UMLS CUI [1,3])
C0522477 (UMLS CUI [1,4])