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.(Leu7HisfsXTer21) Exon 1 c.20_47del28 The mutation became homozygous in the patient by paternal uniparental isodisomy
| Title : Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 - |
| Author(s) : Travaglini L , Aiello C , Alesi V , Loddo S , Novelli A , Tozzi G , Bertini E , Leuzzi V , Brancati F |
| Ref : Brain Dev , 39 :182 , 2017 |
| PubMedID: 27639779 |
| Title : A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1 - Niida_2016_Brain.Dev_38_674 |
| Author(s) : Niida Y , Yokoi A , Kuroda M , Mitani Y , Nakagawa H , Ozaki M |
| Ref : Brain Dev , 38 :674 , 2016 |
| Abstract : Niida_2016_Brain.Dev_38_674 |
| ESTHER : Niida_2016_Brain.Dev_38_674 |
| PubMedSearch : Niida_2016_Brain.Dev_38_674 |
| PubMedID: 26846731 |
| Gene_locus related to this paper: human-PPT1 |