Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients w...
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
About this item
Full title
Author / Creator
Goto, Kensuke , Koyanagi, Yoshito , Akiyama, Masato , Murakami, Yusuke , Fukushima, Masatoshi , Fujiwara, Kohta , Iijima, Hanae , Yamaguchi, Mitsuyo , Endo, Mikiko , Hashimoto, Kazuki , Ishizu, Masataka , Hirakata, Toshiaki , Mizobuchi, Kei , Takayama, Masakazu , Ota, Junya , Sajiki, Ai Fujita , Kominami, Taro , Ushida, Hiroaki , Fujita, Kosuke , Kaneko, Hiroki , Ueno, Shinji , Hayashi, Takaaki , Terao, Chikashi , Hotta, Yoshihiro , Murakami, Akira , Kuniyoshi, Kazuki , Kusaka, Shunji , Wada, Yuko , Abe, Toshiaki , Nakazawa, Toru , Ikeda, Yasuhiro , Momozawa, Yukihide , Sonoda, Koh-Hei and Nishiguchi, Koji M
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundAs gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)-related genes in a large number of Japanese patients with RP by applying the standardised variant inter...
Alternative Titles
Full title
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
Authors, Artists and Contributors
Author / Creator
Koyanagi, Yoshito
Akiyama, Masato
Murakami, Yusuke
Fukushima, Masatoshi
Fujiwara, Kohta
Iijima, Hanae
Yamaguchi, Mitsuyo
Endo, Mikiko
Hashimoto, Kazuki
Ishizu, Masataka
Hirakata, Toshiaki
Mizobuchi, Kei
Takayama, Masakazu
Ota, Junya
Sajiki, Ai Fujita
Kominami, Taro
Ushida, Hiroaki
Fujita, Kosuke
Kaneko, Hiroki
Ueno, Shinji
Hayashi, Takaaki
Terao, Chikashi
Hotta, Yoshihiro
Murakami, Akira
Kuniyoshi, Kazuki
Kusaka, Shunji
Wada, Yuko
Abe, Toshiaki
Nakazawa, Toru
Ikeda, Yasuhiro
Momozawa, Yukihide
Sonoda, Koh-Hei
Nishiguchi, Koji M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2968921914
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2968921914
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg-2023-109750
