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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...

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Bibliografiske detaljer
Main Authors: Gotoda, T, Yamada, N, Kawamura, M, Kozaki, K, Mori, N, Ishibashi, S, Shimano, H, Takaku, F, Yazaki, Y, Furuichi, Y
Format: Artigo
Sprog:Inglês
Udgivet: 1991
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC295753/
https://ncbi.nlm.nih.gov/pubmed/1752947
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