|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
11
|
|
pubmed:dateCreated |
2009-11-5
|
|
pubmed:abstractText |
Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
1945-7197
|
|
pubmed:author |
pubmed-author:ArpiMaria LuisaML,
pubmed-author:AunW TWT,
pubmed-author:AvernaMaurizio RMR,
pubmed-author:BarbagalloCarlo MCM,
pubmed-author:CarroccioAntonioA,
pubmed-author:CefalùAngelo BAB,
pubmed-author:HildenHanneleH,
pubmed-author:NotoDavideD,
pubmed-author:PéterfyMiklósM,
pubmed-author:SpinaRossellaR,
pubmed-author:SquatritoSebastianoS,
pubmed-author:TarugiPatriziaP,
pubmed-author:TaskinenMarja-RiittaMR,
pubmed-author:VigneriRiccardoR
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
94
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
4584-90
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:19820022-Adult,
pubmed-meshheading:19820022-Base Sequence,
pubmed-meshheading:19820022-Codon, Nonsense,
pubmed-meshheading:19820022-Gemfibrozil,
pubmed-meshheading:19820022-Genetic Variation,
pubmed-meshheading:19820022-Humans,
pubmed-meshheading:19820022-Hypertriglyceridemia,
pubmed-meshheading:19820022-Hypolipidemic Agents,
pubmed-meshheading:19820022-Lipoprotein Lipase,
pubmed-meshheading:19820022-Male,
pubmed-meshheading:19820022-Molecular Sequence Data,
pubmed-meshheading:19820022-Triglycerides
|
|
pubmed:year |
2009
|
|
pubmed:articleTitle |
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
|
|
pubmed:affiliation |
Department of Clinical Medicine and Emerging Diseases, University of Palermo, 90127 Palermo, Italy.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|
