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Results: 1
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
Authors: Hata, Akira Emi, Mitsuru Luc, Gerald Basdevant, Alain Gambert, Philippe Iverius, Per-Henrik Lalouel, Jean-Marc
Citation: Hata, Akira et al., Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene., American journal of human genetics , 47-II(4), 1990, pp. 721-726
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