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A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD
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- المؤلفون: Suga, Akiko; Mizobuchi, Kei; Inooka, Taiga; Yoshitake, Kazutoshi; Minematsu, Naoko; Tsunoda, Kazushige; Kuniyoshi, Kazuki; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Ishibashi-Ueda, Hatsue; Tomita, Tsutomu; Noguchi, Michio; Takahashi, Ayako; Goto, Yu-ichi; Yoshida, Sumiko; Hattori, Kotaro; Matsumura, Ryo; Iida, Aritoshi; Maruoka, Yutaka; Gatanaga, Hiroyuki; Sugiyama, Masaya; Suzuki, Satoshi; Miyo, Kengo; Matsubara, Yoichi; Umezawa, Akihiro; Hata, Kenichiro; Kaname, Tadashi; Ozaki, Kouichi; Tokuda, Haruhiko; Watanabe, Hiroshi; Niida, Shumpei; Noiri, Eisei; Kitajima, Koji; Miyahara, Reiko; Shimanuki, Hideyuki; Hayashi, Takaaki; Ueno, Shinji; Iwata, Takeshi
- المصدر:
Genetics in Medicine Open ; page 101843 ; ISSN 2949-7744
- نوع التسجيلة:
article in journal/newspaper
- اللغة:
English
- معلومة اضافية
- Contributors:
Japan Agency for Medical Research and Development
- بيانات النشر:
Elsevier BV
- الموضوع:
2024
- Collection:
ScienceDirect (Elsevier - Open Access Articles via Crossref)
- الرقم المعرف:
10.1016/j.gimo.2024.101843
- Rights:
https://www.elsevier.com/tdm/userlicense/1.0/ ; https://www.elsevier.com/legal/tdmrep-license ; http://creativecommons.org/licenses/by-nc-nd/4.0/
- الرقم المعرف:
edsbas.82724887
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