Gene Locus : human-CEL
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation deletion Kondoh_2022_Tohoku.J.Exp.Med_256_37
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.146_147delCT, Ser49CysfsTer52 a Japanese patient with MODY who harbored a heterogeneous mutation in CEL exon 2 (NM_001807.4:c.146_147delCT\; NP_001798.2:p.Ser49CysfsTer52
| Title : Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes - Kondoh_2022_Tohoku.J.Exp.Med_256_37 |
| Author(s) : Kondoh T , Nakajima Y , Yokoi K , Matsumoto Y , Inagaki H , Kato T , Ito T , Yoshikawa T , Kurahashi H |
| Ref : Tohoku J Exp Med , 256 :37 , 2022 |
| Abstract : Kondoh_2022_Tohoku.J.Exp.Med_256_37 |
| ESTHER : Kondoh_2022_Tohoku.J.Exp.Med_256_37 |
| PubMedSearch : Kondoh_2022_Tohoku.J.Exp.Med_256_37 |
| PubMedID: 35082198 |
| Gene_locus related to this paper: human-CEL |