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.(Cys96Tyr)c.287G>A Exon3 CM011802
Title : Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases - Setty_2013_J.Pediatr.Neurosci_8_117 |
Author(s) : Setty G , Saleem R , Khan A , Hussain N |
Ref : J Pediatr Neurosci , 8 :117 , 2013 |
Abstract : |
PubMedSearch : Setty_2013_J.Pediatr.Neurosci_8_117 |
PubMedID: 24082928 |
Gene_locus related to this paper: human-PPT1 |
Title : Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses - Kousi_2012_Hum.Mutat_33_42 |
Author(s) : Kousi M , Lehesjoki AE , Mole SE |
Ref : Hum Mutat , 33 :42 , 2012 |
Abstract : |
PubMedSearch : Kousi_2012_Hum.Mutat_33_42 |
PubMedID: 21990111 |
Gene_locus related to this paper: human-PPT1 |
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 |