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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...

Celý popis

Uloženo v:
Vydáno v:J Clin Invest
Hlavní autoři: Gotoda, T, Yamada, N, Kawamura, M, Kozaki, K, Mori, N, Ishibashi, S, Shimano, H, Takaku, F, Yazaki, Y, Furuichi, Y
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1991
Témata:
Research Article
On-line přístup: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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