Gene Locus : human-CEL
Mode of mutation : Natural mutant
Disease :
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.1809dup, in exon11 of the CEL gene. (p. Val604ArgfsTer6), 12-year-old boy presenting with impaired fasting glucose, heterozygous mutation in the CEL gene.The child exhibited only early-stage diabetes without.. concomitant pancreatic exocrine insufficiency, indicating a phenotypically mild form
| Title : Novel variation in the CEL gene causing impaired fasting glucose in a Chinese pediatric patient: case report and literature review - Su_2026_Front.Endocrinol.(Lausanne)_17_1706262 |
| Author(s) : Su C , Piao Y , Chen C , Wu D , Li R , Sang Y |
| Ref : Front Endocrinol (Lausanne) , 17 :1706262 , 2026 |
| Abstract : |
| PubMedSearch : Su_2026_Front.Endocrinol.(Lausanne)_17_1706262 |
| PubMedID: 41658513 |
| Gene_locus related to this paper: human-CEL |