Article
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.
Human genetics - 1 Jan 2010
Torsvik Janniche, Johansson Stefan, Johansen Anders, Ek Jakob, Minton Jayne, Raeder Helge, Ellard Sian, Hattersley Andrew, Pedersen Oluf, Hansen Torben, Molven Anders, Njølstad Pål R
Abstract excerpt
We have previously shown that heterozygous single-base deletions in the carboxyl-ester lipase (CEL) gene cause exocrine and endocrine pancreatic dysfunction in two multigenerational families. These deletions were found in the first and fourth repeats of a variable number of tandem repeats (VNTR), which has proven challenging to sequence due to high GC-content and considerable length variation. We have therefore...
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