Article
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
The Journal of clinical endocrinology and metabolism - 24 Mar 2022
El Jellas Khadija, Dušátková Petra, Haldorsen Ingfrid S, Molnes Janne, Tjora Erling, Johansson Bente B, Fjeld Karianne, Johansson Stefan, Průhová Štěpánka, Groop Leif, Löhr J Matthias, Njølstad Pål R, Molven Anders
Abstract excerpt
CONTEXT: Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed to mutations in CEL without any functional or clinical evidence provided. OBJECTIVE: To facilitate correct MODY8 diagnostics, we screened 2 cohorts of diabetes patients and...
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