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Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
Henderson HE, Ma Y, Hassan MF, Monsalve MV, Marais AD, Winkler F, Gubernator K, Peterson J, Brunzell JD, Hayden MR. Henderson HE, et al. Among authors: hayden mr. J Clin Invest. 1991 Jun;87(6):2005-11. doi: 10.1172/JCI115229. J Clin Invest. 1991. PMID: 1674945 Free PMC article.
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