Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

Studies on the molecular biology of lipoprotein lipase (LPL) deficiency have been facilitated by the availability of LPL gene probes and the recent characterization of gene mutations underlying human LPL deficiency. Typically, missense mutations have predominated and show a preferential localization...

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Detalhes bibliográficos
Main Authors: Henderson, H E, Ma, Y, Hassan, M F, Monsalve, M V, Marais, A D, Winkler, F, Gubernator, K, Peterson, J, Brunzell, J D, Hayden, M R
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC296955/
https://ncbi.nlm.nih.gov/pubmed/1674945
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