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.Asp43_Gly145del c.125-15T>G Aberrant splicing Splice site CS067111
| 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 : Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations - Simonati_2009_Pediatr.Neurol_40_271 |
| Author(s) : Simonati A , Tessa A , Bernardina BD , Biancheri R , Veneselli E , Tozzi G , Bonsignore M , Grosso S , Piemonte F , Santorelli FM |
| Ref : Pediatr Neurol , 40 :271 , 2009 |
| Abstract : Simonati_2009_Pediatr.Neurol_40_271 |
| ESTHER : Simonati_2009_Pediatr.Neurol_40_271 |
| PubMedSearch : Simonati_2009_Pediatr.Neurol_40_271 |
| PubMedID: 19302939 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis - Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| Author(s) : Bonsignore M , Tessa A , Di Rosa G , Piemonte F , Dionisi-Vici C , Simonati A , Calamoneri F , Tortorella G , Santorelli FM |
| Ref : Eur J Paediatr Neurol , 10 :154 , 2006 |
| Abstract : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| ESTHER : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| PubMedSearch : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| PubMedID: 16759889 |
| Gene_locus related to this paper: human-PPT1 |