September 1, 1990Journal of Clinical InvestigationOpen Access

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.

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Population

13 unrelated affected probands with lipoprotein lipase deficiency of French Canadian, English, Polish…

Design

Other

Authors

MMMaría Victoria MonsalveUniversity of British Columbia HHHeather HendersonUniversity of North Carolina at Chapel Hill GRGhislaine O. RoedererMontreal Clinical Research Institute

Discussion

Member takes

Implication

May enable targeted LPL mutation screening; leaves open broader diagnostic adoption without validation studies.

Structured PICO

Population

13 unrelated affected probands with lipoprotein lipase (LPL) deficiency of French Canadian, English, Polish, German, Dutch, and East Indian ancestry (88 LPL alleles assessed).

Outcome

Identification of the genetic mutation responsible for LPL deficiency

A specific missense mutation at codon 188 of the LPL gene is a frequent cause of lipoprotein lipase deficiency across multiple ancestries, allowing for rapid screening.

Cite This Study

Monsalve et al. (1990) studied this question.

synapsesocial.com/papers/6a713094fe4101aa97e07910 https://doi.org/10.1172/jci114769

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A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider