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Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases
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 eviden...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8947231/ https://www.ncbi.nlm.nih.gov/pubmed/34850019 http://dx.doi.org/10.1210/clinem/dgab864 |
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