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Masumi Ishikawa
Masumi Ishikawa
Shinshu University
Medicine
Frameshift mutation
Genetics
Biology
Ehlers–Danlos syndrome
4
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18
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A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.
2021
International Journal of Hematology
Hideyuki Nakazawa
Tomomi Yamaguchi
Hitoshi Sakai
Masae Maruyama
Toru Kawakami
Fumihiro Kawakami
Sayaka Nishina
Masumi Ishikawa
Tomoki Kosho
Fumihiro Ishida
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Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials.
2020
Molecular genetics and metabolism reports
Hitomi Nishizawa
Yoshihiko Sato
Masumi Ishikawa
Yuko Arakawa
Mari Iijima
Tomoyuki Akiyama
Kyoko Takano
Atsushi Watanabe
Tomoki Kosho
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Citations (1)
Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing
2018
International Heart Journal
Norimichi Koitabashi
Tomomi Yamaguchi
Daisuke Fukui
Takahide Nakano
Atsushi Umeyama
Kazuyoshi Toda
Ryuichi Funada
Masumi Ishikawa
Rie Kawamura
Kenji Okada
Atsushi Hatamochi
Tomoki Kosho
Masahiko Kurabayashi
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A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
2017
Human genome variation
Tsuneaki Yoshinaga
Katsuya Nakamura
Masumi Ishikawa
Tomomi Yamaguchi
Kyoko Takano
Keiko Wakui
Tomoki Kosho
Kunihiro Yoshida
Yoshimitsu Fukushima
Yoshiki Sekijima
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Citations (13)
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