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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Detalles Bibliográficos

Publicado en:	J Clin Invest
Autores principales:	Gotoda, T, Yamada, N, Kawamura, M, Kozaki, K, Mori, N, Ishibashi, S, Shimano, H, Takaku, F, Yazaki, Y, Furuichi, Y
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	American Society for Clinical Investigation 1991
Materias:	Research Article
Acceso en línea:	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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