January 1, 2000Journal of Atherosclerosis and ThrombosisOpen Access

A Japanese Patient with Lipoprotein Lipase Deficiency Homozygous for the Gly188Glu Mutation Prevalent Worldwide

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Population

A four-month-old Japanese infant with severe hyperchylomicronemia and familial lipoprotein lipase deficiency.

Design

Case_report

Authors

TYTomohiko YoshidaChiba University TGTakanari GotodaKyorin University MOMinoru OkuboImperial Household Agency

Discussion

Member takes

Implication

Does not alter LPL deficiency management; leaves open broader population genetics of Gly188Glu.

Structured PICO

Population

A four-month-old Japanese infant with severe hyperchylomicronemia and familial lipoprotein lipase (LPL) deficiency (proband of a new kindred).

Intervention

Genetic analysis including single strand conformational polymorphism (SSCP), DNA sequencing, and DNA haplotype analysis.

Outcome

Molecular basis of familial LPL deficiency and DNA haplotype origin.surrogate

The identification of a novel haplotype for the Gly188Glu mutation in a Japanese infant with LPL deficiency suggests that this globally prevalent mutation may have multiple independent origins.

Cite This Study

Yoshida et al. (2000) studied this question.

synapsesocial.com/papers/6a82c2e9061372775e6d12e9 https://doi.org/10.5551/jat1994.7.45

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A Japanese Patient with Lipoprotein Lipase Deficiency Homozygous for the Gly188Glu Mutation Prevalent Worldwide

Discussion

Member takes

Implication

Structured PICO

Cite This Study

A Japanese Patient with Lipoprotein Lipase Deficiency Homozygous for the Gly188Glu Mutation Prevalent Worldwide

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider