Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas

Abstract The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR singl...

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Veröffentlicht in:Human molecular genetics 2024-05, Vol.33 (11), p.1001-1014
Hauptverfasser: Brekke, Ranveig S, Gravdal, Anny, El Jellas, Khadija, Curry, Grace E, Lin, Jianguo, Wilhelm, Steven J, Steine, Solrun J, Mas, Eric, Johansson, Stefan, Lowe, Mark E, Johansson, Bente B, Xiao, Xunjun, Fjeld, Karianne, Molven, Anders
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Sprache:eng
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