A <i>de novo</i> splice-site variant in the <i>retinitis pigmentosa 2</i> ( <i>RP2</i> ) gene identified in a symptomatic carrier woman
Year: 2025
Type: article
Language: en
Topic: Retinal Development and Disorders
Authors and affiliations:
raw_author_name: Aya Domoto
raw_affiliation_strings: Kindai University Faculty of Medicine
Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan
raw_author_name: Kazuki Kuniyoshi
raw_affiliation_strings: Kindai University Faculty of Medicine
Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan
raw_author_name: Akiko Suga
raw_affiliation_strings: NHO Tokyo Medical Center
Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan
raw_author_name: Kei Mizobuchi
raw_affiliation_strings: The Jikei University School of Medicine
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan
raw_author_name: Kazutoshi Yoshitake
raw_affiliation_strings: Kitasato University
NHO Tokyo Medical Center
School of Marine Biosciences, Kitasato University, Sagamihara, Japan
Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan
raw_author_name: Yosuke Kawai
raw_affiliation_strings: National Center for Global Health and Medicine
Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan
raw_author_name: Yosuke Omae
raw_affiliation_strings: National Center for Global Health and Medicine
Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan
raw_author_name: Katsushi Tokunaga
raw_affiliation_strings: National Center for Global Health and Medicine
Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan
raw_author_name: Miki Sawa
raw_affiliation_strings: Sakai City Medical Center
Department of Ophthalmology, Sakai City Medical Center, Sakai, Japan
raw_author_name: Takaaki Hayashi
raw_affiliation_strings: The Jikei University School of Medicine
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan
raw_author_name: Fukutaro Mano
raw_affiliation_strings: Kindai University Faculty of Medicine
Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan
raw_author_name: Masuo Sakamoto
raw_affiliation_strings: Kindai University Faculty of Medicine
Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan
raw_author_name: Chiharu Iwahashi
raw_affiliation_strings: Kindai University Faculty of Medicine
Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan
raw_author_name: Tadashi Nakano
raw_affiliation_strings: The Jikei University School of Medicine
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan
raw_author_name: Takeshi Iwata
raw_affiliation_strings: NHO Tokyo Medical Center
Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan
raw_author_name: Shunji Kusaka
raw_affiliation_strings: Kindai University Faculty of Medicine
Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka-sayama, Japan