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 : c.88C>A p.Q30X p.Gln30Ter exon 1. Found in a compound heterozygous mutation c.88C>T\/c.928 T>C of exon 1 and exon 6 a male infant 1 month old . Plama exchange therapy successful
| Title : Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report - Han_2022_Medicine.(Baltimore)_101_e29689 |
| Author(s) : Han L , Qiang G , Yang L , Kou R , Li Q , Xin M , Liu R , Zhang Z |
| Ref : Medicine (Baltimore) , 101 :e29689 , 2022 |
| Abstract : Han_2022_Medicine.(Baltimore)_101_e29689 |
| ESTHER : Han_2022_Medicine.(Baltimore)_101_e29689 |
| PubMedSearch : Han_2022_Medicine.(Baltimore)_101_e29689 |
| PubMedID: 35960041 |
| Gene_locus related to this paper: human-LPL |