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Article

Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.

The Tohoku journal of experimental medicine - 1 Jan 2022

Kondoh Tomomi, Nakajima Yoko, Yokoi Katsuyuki, Matsumoto Yuji, Inagaki Hidehito, Kato Takema, Nakajima Yoichi, Ito Tetsuya, Yoshikawa Tetsushi, Kurahashi Hiroki

Abstract excerpt

Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and the absence of pancreatic autoimmune markers. MODY-causing mutations have been identified in 14 genes, and carboxyl ester lipase (CEL) has been implicated in MODY8. We report a Japanese patient with MODY who harbored a heterogeneous mutation in CEL exon 2...

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PMID: 35082198
DOI: 10.1620/tjem.256.37

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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