Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
Phe351Leu\/HGVSF378 L\; 1134C > G, located in exon 7 of the LPL gene variant of unconfirmed pathogenicity (pathogenicity is doubtful)
| Title : Mutations at the lipoprotein lipase gene locus in subjects with diabetes mellitus, obesity and lipaemia - Zhang_1997_Clin.Sci.(Lond)_93_335 |
| Author(s) : Zhang Q , Cavallero E , Hoffmann MM , Cavanna J , Kay A , Charles A , Braschi S , Marz W , Perlemuter L , Jacotot B , Galton DJ |
| Ref : Clinical Science (Lond) , 93 :335 , 1997 |
| Abstract : |
| PubMedSearch : Zhang_1997_Clin.Sci.(Lond)_93_335 |
| PubMedID: 9404225 |
| Gene_locus related to this paper: human-LPL |