A case of early-onset diabetes with impaired insulin secretion carrying a PAX6 gene Gln135* mutation

A paired homeodomain transcription factor, PAX6 (paired-box 6), is essential for the development and differentiation of pancreatic endocrine cells as well as ocular cells. Despite the impairment of insulin secretion observed in PAX6-deficient mice, evidence implicating causal association between PAX...

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Egile Nagusiak:	Motohiro Sekiya, Mikiko Yuhara, Yuki Murayama, Mariko Ohyama Osawa, Rikako Nakajima, Nami Ohuchi, Nako Matsumoto, Daichi Yamazaki, Sayuri Mori, Takaaki Matsuda, Yoko Sugano, Yoshinori Osaki, Hitoshi Iwasaki, Hiroaki Suzuki, Hitoshi Shimano
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Bioscientifica 2022-08-01
Saila:	Endocrinology, Diabetes & Metabolism Case Reports
Sarrera elektronikoa:	https://edm.bioscientifica.com/view/journals/edm/2022/1/EDM22-0271.xml
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A case of early-onset diabetes with impaired insulin secretion carrying a PAX6 gene Gln135* mutation

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