Gene Locus : human-CEL
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation deletion El Jellas_2021_J.Clin.Endocrinol.Metab__
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 : One Swedish case with germline mutation in CEL. single-base pair deletions in the proximal part of the CEL variable number of tandem repeat (VNTR) region in exon 11
| Title : Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases - El Jellas_2021_J.Clin.Endocrinol.Metab__ |
| Author(s) : El Jellas K , Dusatkova P , Haldorsen IS , Molnes J , Tjora E , Johansson BB , Fjeld K , Johansson S , Pruhova S , Groop L , Lohr JM , Njolstad PR , Molven A |
| Ref : J Clinical Endocrinology Metab , : , 2021 |
| Abstract : El Jellas_2021_J.Clin.Endocrinol.Metab__ |
| ESTHER : El Jellas_2021_J.Clin.Endocrinol.Metab__ |
| PubMedSearch : El Jellas_2021_J.Clin.Endocrinol.Metab__ |
| PubMedID: 34850019 |
| Gene_locus related to this paper: human-CEL |