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.Exon skipping c.628-1G>T Intron6. Aberrant splicing Splice site CS000593
| Title : New mutations in the neuronal ceroid lipofuscinosis genes - Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| Author(s) : Mole SE , Zhong NA , Sarpong A , Logan WP , Hofmann S , Yi W , Franken PF , van Diggelen OP , Breuning MH , Moroziewicz D , Ju W , Salonen T , Holmberg V , Jarvela I , Taschner PE |
| Ref : Eur J Paediatr Neurol , 5 Suppl A :7 , 2001 |
| Abstract : |
| PubMedSearch : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedID: 11589012 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL\;CLN1) - Salonen_2000_Hum.Mutat_15_273 |
| Author(s) : Salonen T , Jarvela I , Peltonen L , Jalanko A |
| Ref : Hum Mutat , 15 :273 , 2000 |
| Abstract : |
| PubMedSearch : Salonen_2000_Hum.Mutat_15_273 |
| PubMedID: 10679943 |
| Gene_locus related to this paper: human-PPT1 |