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.Glu260LysfsX35 c.776insA 1-bp insertion Exon8
| Title : A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis - Miller_2013_J.Child.Neurol_28_1106 |
| Author(s) : Miller JN , Pearce DA |
| Ref : Journal of Child Neurology , 28 :1106 , 2013 |
| Abstract : Miller_2013_J.Child.Neurol_28_1106 |
| ESTHER : Miller_2013_J.Child.Neurol_28_1106 |
| PubMedSearch : Miller_2013_J.Child.Neurol_28_1106 |
| PubMedID: 23857568 |
| Gene_locus related to this paper: human-PPT1 |