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.(Gly250Val) c.749G>T Exon8. CM981636 rs386833666
| 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 : Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis - Das_2001_Hum.Mol.Genet_10_1431 |
| Author(s) : Das AK , Lu JY , Hofmann SL |
| Ref : Hum Mol Genet , 10 :1431 , 2001 |
| Abstract : |
| PubMedSearch : Das_2001_Hum.Mol.Genet_10_1431 |
| PubMedID: 11440996 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361 |
| Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL |
| Ref : Journal of Clinical Investigation , 102 :361 , 1998 |
| Abstract : |
| PubMedSearch : Das_1998_J.Clin.Invest_102_361 |
| PubMedID: 9664077 |
| Gene_locus related to this paper: human-PPT1 |