Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)-Reference-Cited by-同舟云学术

Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)

Published:2000-02 Issue:2 Volume:57 Page:140-147
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Bertolini S,Simone Ml,Pes Gm,Ghisellini M,Rolleri M,Bellocchio A,Elicio N,Masturzo P,Calandra S

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2000.570209.x/fullpdf

Reference38 articles.

1. Structure and functional properties of lipoprotein lipase;Wang;Biochim Biophys Acta,1992

2. Lipoprotein lipase gene expression: physiological regulators at the transcriptional and post-transcriptional level;Enerback;Biochim Biophys Acta,1993

3. Structure, function and role of lipoprotein lipase in lipoprotein metabolism;Santamarina-Fojo;Curr Opin Lipidol,1994

4. Triglyceride lipases and atherosclerosis;Olivecrona;Curr Opin Lipidol,1995

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