A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

Endocrine Journal - Tập 60 Số 7 - Trang 855-859 - 2013
Rie Shigetomi Yamaguchi1, Fumiko Kato1, Tomonobu Hasegawa2, Noriyuki Katsumata3, Maki Fukami3, Toshiharu Matsui4, Keisuke Nagasaki5, Tsutomu Ogata1
1Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
2Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan
3Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan
4Department of Pediatrics, Nagaoka Chuo General Hospital, Nagaoka 940-8653, Japan
5Division of Pediatrics, Niigata University Graduate School of Medicine and Dental Sciences, Niigata 951-8122, Japan

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