A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5

We previously performed next-generation sequencing-based genetic screening in patients with autoantibody-negative type 1 diabetes, and identified the p.Leu168Pro mutation in HNF1B. Here,we report the clinical course of the patient and the results of functional characterization of this mutation. The...

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Detalles Bibliográficos
Autores principales: Yoshida, Kei, Mushimoto, Yuichi, Tanase-Nakao, Kanako, Akiba, Kazuhisa, Ishii, Kanako, Urakami, Tatsuhiko, Sugihara, Shigetaka, Kikuchi, Toru, Fukami, Maki, Narumi, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481079/
https://www.ncbi.nlm.nih.gov/pubmed/34629740
http://dx.doi.org/10.1297/cpe.30.179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481079/
https://www.ncbi.nlm.nih.gov/pubmed/34629740
http://dx.doi.org/10.1297/cpe.30.179

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