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.(Gln91Pro) c.272A>C Exon3 CM068404
| Title : [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis] - Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| Author(s) : Bi HY , Yao S , Bu DF , Wang ZX , Zhang Y , Qin J , Yang YL , Yuan Y |
| Ref : Zhonghua Er Ke Za Zhi , 44 :496 , 2006 |
| Abstract : Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| ESTHER : Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| PubMedSearch : Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| PubMedID: 17044973 |
| Gene_locus related to this paper: human-PPT1 |