Gene Locus : human-PPT1
Mode of mutation : Natural mutant
Disease : Infantile neuronal ceroid lipofuscinosis
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.(Gly118Asp) c.353G>A Exon3 rs143657539, CM993456
| Title : Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis - Waliany_2000_Hum.Mutat_15_206 |
| Author(s) : Waliany S , Das AK , Gaben A , Wisniewski KE , Hofmann SL |
| Ref : Hum Mutat , 15 :206 , 2000 |
| Abstract : |
| PubMedSearch : Waliany_2000_Hum.Mutat_15_206 |
| PubMedID: 10649502 |
| Gene_locus related to this paper: human-PPT1 |