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.(Glu178Val) c.533A>T Exon6. Compound heterozygous.Glu 178Val + p.Ser241Leu c.533A > T + c.722 C > T
| Title : Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series - Perez-Poyato_2012_Gene_499_297 |
| Author(s) : Perez Poyato MS , Mila Recansens M , Ferrer Abizanda I , Domingo Jimenez R , Lopez Lafuente A , Cusi Sanchez V , Rodriguez-Revenga L , Coll Rosell MJ , Gort L , Poo Arguelles P , Pineda Marfa M |
| Ref : Gene , 499 :297 , 2012 |
| Abstract : Perez-Poyato_2012_Gene_499_297 |
| ESTHER : Perez-Poyato_2012_Gene_499_297 |
| PubMedSearch : Perez-Poyato_2012_Gene_499_297 |
| PubMedID: 22387303 |
| Gene_locus related to this paper: human-PPT1 |