A Novel heterozygous mutation of WFS1 gene leading to constitutive ER stress is the cause of Wolfram syndrome.

Shuntaro Morikawa

[P1-2-3] A Novel heterozygous mutation of WFS1 gene leading to constitutive ER stress is the cause of Wolfram syndrome.

^○Shuntaro Morikawa¹, Toshihiro Tajima^1,2, Akie Nakamura^1,3, Takeshi Yamaguchi¹, Katsura Ishizu¹, Tadashi Ariga¹ (1.Department of Pediatrics, Hokkaido University Graduate School of Medicine, 2.Department of Pediatrics, Jichi Children’s Medical Center, 3.Department of Molecular Endocrinology, National Research Institute for Child Health and Development)

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P1-2: DM, Obesity

[P1-2-3] A Novel heterozygous mutation of WFS1 gene leading to constitutive ER stress is the cause of Wolfram syndrome.

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