A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5)

Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of early onset diabetes. The hepatocyte nuclear factor-1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5) with distinctive clinical features, including pancreatic atrophy and renal disease. We herein report a Japanese...

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Bibliografiska uppgifter
I publikationen:Intern Med
Huvudupphovsmän: Kato, Tomoko, Tanaka, Daisuke, Muro, Seiji, Jambaljav, Byambatseren, Mori, Eisaku, Yonemitsu, Shin, Oki, Shogo, Inagaki, Nobuya
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Japanese Society of Internal Medicine 2018
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6096008/
https://ncbi.nlm.nih.gov/pubmed/29491316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.9692-17
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