Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing

by Norihiko Matsutani, Hiroto Furuta, Shohei Matsuno, Yoshimasa Oku, Shuhei Morita, Shinsuke Uraki, Asako Doi, Machi Furuta, Hiroshi Iwakura, Hiroyuki Ariyasu, Masahiro Nishi, Takashi Akamizu
Published 2020-03-01

Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6‐year clinical course

by Shinsuke Uraki, Hiroto Furuta, Masakazu Miyawaki, Norihiko Matsutani, Yuko Shima, Miki Iwamoto, Shohei Matsuno, Shuhei Morita, Machi Furuta, Asako Doi, Hiroshi Iwakura, Hiroyuki Ariyasu, Masahiro Nishi, Hiroyuki Suzuki, Takashi Akamizu
Published 2020-03-01

Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

by Shohei Matsuno, Hiroto Furuta, Kitaro Kosaka, Asako Doi, Tohru Yorifuji, Takuya Fukuda, Takafumi Senmaru, Shinsuke Uraki, Norihiko Matsutani, Machi Furuta, Hiroyuki Mishima, Hiroshi Iwakura, Masahiro Nishi, Kohichiro Yoshiura, Michiaki Fukui, Takashi Akamizu
Published 2019-07-01