Gene Locus : human-CEL
Mode of mutation :
Disease : Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8
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 : patients 1 carried novel heterozygous delition of exons 10 and 11 and had low levels of CEL transcripts compared with their unaffected family members carrying the full-length CEL
| Title : Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes - Wu_2023_BMJ.Open.Diabetes.Res.Care_11_e003127 |
| Author(s) : Wu H , Shu M , Liu C , Zhao W , Li Q , Song Y , Zhang T , Chen X , Shi Y , Shi P , Fang L , Wang R , Xu C |
| Ref : BMJ Open Diabetes Res Care , 11 : , 2023 |
| Abstract : Wu_2023_BMJ.Open.Diabetes.Res.Care_11_e003127 |
| ESTHER : Wu_2023_BMJ.Open.Diabetes.Res.Care_11_e003127 |
| PubMedSearch : Wu_2023_BMJ.Open.Diabetes.Res.Care_11_e003127 |
| PubMedID: 36634979 |
| Gene_locus related to this paper: human-CEL |