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 : p.M328R Met328Arg (Met301Arg M301R in the mature protein)
| Title : Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study - Kavazarakis_2004_Eur.J.Pediatr_163_462 |
| Author(s) : Kavazarakis E , Stabouli S , Gourgiotis D , Roumeliotou K , Traeger-Synodinos J , Bossios A , Fretzayas A , Kanavakis E |
| Ref : Eur J Pediatr , 163 :462 , 2004 |
| Abstract : Kavazarakis_2004_Eur.J.Pediatr_163_462 |
| ESTHER : Kavazarakis_2004_Eur.J.Pediatr_163_462 |
| PubMedSearch : Kavazarakis_2004_Eur.J.Pediatr_163_462 |
| PubMedID: 15185149 |