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1-2 of 2
Keywords: KMT2B
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Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Naoto Sugeno, Takafumi Hasegawa, Kazuhiro Haginoya, Takafumi Kubota, Kensuke Ikeda, Takaaki Nakamura, Shun Ishiyama, Kazuki Sato, Shun Yoshida, Eriko Koshimizu, Mitsugu Uematsu, Satoko Miyatake, Naomichi Matsumoto, Masashi Aoki
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (6): 461–468.
Published Online: 26 June 2023
...Naoto Sugeno; Takafumi Hasegawa; Kazuhiro Haginoya; Takafumi Kubota; Kensuke Ikeda; Takaaki Nakamura; Shun Ishiyama; Kazuki Sato; Shun Yoshida; Eriko Koshimizu; Mitsugu Uematsu; Satoko Miyatake; Naomichi Matsumoto; Masashi Aoki Introduction: DYT- KMT2B is a rare childhood-onset, hereditary movement...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (2): 159–164.
Published Online: 17 November 2021
...Ayşe Aksoy; Özlem Yayıcı Köken; Ahmet Cevdet Ceylan; Özge Toptaş Dedeoğlu In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the KMT2B (NM_014727.2) gene diagnosed in a male patient with KMT2B -related dystonia (DYT- KMT2B , DYT-28...
