Gene Locus : human-CEL
Mode of mutation : Natural mutant
Disease : Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8
Summary : Natural mutation deletion Torsvik_2010_Hum.Genet_127_55
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 : In a family 7 patients showed only 3 repeats in the VNTR instead of the 7 to 23 repeats found in healthy subjects
| Title : Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes - Torsvik_2010_Hum.Genet_127_55 |
| Author(s) : Torsvik J , Johansson S , Johansen A , Ek J , Minton J , Raeder H , Ellard S , Hattersley A , Pedersen O , Hansen T , Molven A , Njolstad PR |
| Ref : Hum Genet , 127 :55 , 2010 |
| Abstract : Torsvik_2010_Hum.Genet_127_55 |
| ESTHER : Torsvik_2010_Hum.Genet_127_55 |
| PubMedSearch : Torsvik_2010_Hum.Genet_127_55 |
| PubMedID: 19760265 |
| Gene_locus related to this paper: human-CEL |
| Title : Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. - Raeder_2006_Nat.Genet_38_54 |
| Author(s) : Raeder H , Johansson S , Holm PI , Haldorsen IS , Mas E , Sbarra V , Nermoen I , Eide SA , Grevle L , Bjorkhaug L , Sagen JV , Aksnes L , Svik O , Lombardo D , Molven A , Njolstad PR |
| Ref : Nat Genet , 38 :54 , 2006 |
| Abstract : Raeder_2006_Nat.Genet_38_54 |
| ESTHER : Raeder_2006_Nat.Genet_38_54 |
| PubMedSearch : Raeder_2006_Nat.Genet_38_54 |
| PubMedID: 16369531 |
| Gene_locus related to this paper: human-CEL |