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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Detalhes bibliográficos

Publicado no:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1991
Assuntos:	Research Article
Acesso em linha:	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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