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 : c.363-3T>G Intron 3 Possible aberrant splicing Splice site CS043792
| Title : The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina - Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| Author(s) : Kohan R , Pesaola F , Guelbert N , Pons P , Oller-Ramirez AM , Rautenberg G , Becerra A , Sims K , Xin W , Cismondi IA , Noher de Halac I |
| Ref : Biochimica & Biophysica Acta , 1852 :2301 , 2015 |
| Abstract : Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| ESTHER : Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| PubMedSearch : Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| PubMedID: 25976102 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy - Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| Author(s) : Santorelli FM , Garavaglia B , Cardona F , Nardocci N , Bernardina BD , Sartori S , Suppiej A , Bertini E , Claps D , Battini R , Biancheri R , Filocamo M , Pezzini F , Simonati A |
| Ref : Orphanet J Rare Dis , 8 :19 , 2013 |
| Abstract : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| ESTHER : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedSearch : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedID: 23374165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients - Kohan_2009_Clin.Genet_76_372 |
| Author(s) : Kohan R , Cismondi IA , Kremer RD , Muller VJ , Guelbert N , Anzolini VT , Fietz MJ , Ramirez AM , Halac IN |
| Ref : Clin Genet , 76 :372 , 2009 |
| Abstract : Kohan_2009_Clin.Genet_76_372 |
| ESTHER : Kohan_2009_Clin.Genet_76_372 |
| PubMedSearch : Kohan_2009_Clin.Genet_76_372 |
| PubMedID: 19793312 |
| Gene_locus related to this paper: human-PPT1 |