Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.

Cloning and sequencing of translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who has the chylomicronemia syndrome revealed that he was a compound heterozygote for two nucleotide substitutions. One (TCC----ACC) leads to an amino acid substitution...

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Detalhes bibliográficos
Main Authors: Hata, A, Emi, M, Luc, G, Basdevant, A, Gambert, P, Iverius, P H, Lalouel, J M
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683775/
https://ncbi.nlm.nih.gov/pubmed/2121025
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