A novel splice-site mutation of the HNF1B gene in a family with maturity onset diabetes of the young type 5 (MODY5)

SUMMARY: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes mellitus characterised by early onset and dominant inheritance. Delayed diagnosis or misdiagnosis as type 1 or type 2 diabetes mellitus is common. Definitive genetic diagnosis is essential for appropriate treatment...

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Vydáno v:Endocrinol Diabetes Metab Case Rep
Hlavní autoři: Fujita, Yuki, Tanaka, Daisuke, Tatsuoka, Hisato, Matsubara, Miho, Hyo, Takanori, Hamamoto, Yoshiyuki, Komiya, Toshiyuki, Inagaki, Nobuya, Seino, Yutaka, Yamazaki, Yuji
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2020
Témata:
Insight into Disease Pathogenesis or Mechanism of Therapy
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7576636/
https://ncbi.nlm.nih.gov/pubmed/33434175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0092
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