Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
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 :
c.973dupA p.(M325Nfs*5)
| Title : [Analysis of six children with 3-methylglutaconic aciduria] - Ling_2021_Zhonghua.Er.Ke.Za.Zhi_59_695 |
| Author(s) : Ling SY , Yu Y , Qiu WJ , Ye J , Ji WJ , Zhan X , Gong ZW , Gu XF , Han LS |
| Ref : Zhonghua Er Ke Za Zhi , 59 :695 , 2021 |
| Abstract : |
| PubMedSearch : Ling_2021_Zhonghua.Er.Ke.Za.Zhi_59_695 |
| PubMedID: 34333924 |
| Gene_locus related to this paper: human-SERAC1 |