Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transitio...

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הוצא לאור ב:	J Clin Invest
Principais autores:	Gotoda, T, Yamada, N, Kawamura, M, Kozaki, K, Mori, N, Ishibashi, S, Shimano, H, Takaku, F, Yazaki, Y, Furuichi, Y
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	American Society for Clinical Investigation 1991
נושאים:	Research Article
גישה מקוונת:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295753/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1752947/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115507
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