January 1, 1994Human Mutation

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

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Population

4 patients with familial chylomicronemia of German, French, Dutch, and Chinese descent

Design

Case_series

Authors

YMYuanhong MaHangzhou Normal University MLMing‐Sun LiuFullerton College DCDavid ChitayatMount Sinai Hospital

Discussion

Member takes

Implication

May guide variant interpretation in LPL chylomicronemia; leaves open broader recurrent mutation characterization in larger cohorts.

Structured PICO

Population

4 patients with familial chylomicronemia of German, French, Dutch, and Chinese descent

Outcome

Molecular basis of lipoprotein lipase (LPL) deficiency (gene mutations)

The identification of recurrent mutations at codon Arg243 of the LPL gene highlights the high mutability of CpG dinucleotides in patients with familial chylomicronemia.

Cite This Study

Ma et al. (1994) studied this question.

synapsesocial.com/papers/6a713094fe4101aa97e0790c https://doi.org/10.1002/humu.1380030109

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Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider