June 1, 1991Journal of Lipid ResearchOpen Access

ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.

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Population

A kindred with hypobetalipoproteinemia, including an asymptomatic 37-year-old Caucasian male proband and 11…

Design

Case_series

Authors

RWRD WagnerWashington University in St. Louis EKElaine S. KrulUniversity of Missouri–St. Louis JTJingjing TangLos Angeles County Department of Health Services

Discussion

Member takes

Implication

Novel apoB truncation linked to hypobetalipoproteinemia; extends mutation spectrum but leaves open effects on lipoprotein metabolism.

Structured PICO

Population

A kindred with hypobetalipoproteinemia, including an asymptomatic 37-year-old Caucasian male proband and 11 family members spanning three generations.

Outcome

Identification of the genetic mutation and characterization of the truncated apoB proteinsurrogate

The identification of apoB-54.8, a truncated apolipoprotein caused by a nonsense mutation, provides insight into the genetic basis of hypobetalipoproteinemia and suggests that truncation length affects lipoprotein particle metabolism.

Cite This Study

Wagner et al. (1991) studied this question.

synapsesocial.com/papers/6a226bdc6f3039e14eff5d2c https://doi.org/10.1016/s0022-2275(20)41997-2

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ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider