Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Autor:	Kazuki Kuniyoshi, Daisuke Iejima, Kazutoshi Yoshitake, Kaoru Fujinami, Kazushige Tsunoda, Masayoshi Iwaki, Shinji Ueno, Shuhei Kameya, Kazuma Oku, Atsushi Hiyoshi, Kei Shinoda, Eiichi Uchio, Nobuhisa Nao-i, Mineo Kondo, Atsushi Mizota, Hiroko Terasaki, Takeshi Morimoto, Noriko Oishi, Shunji Kusaka, Tadashi Nakano, Akiko Iwata, Takeshi Iwata, Satoshi Katagiri, Hiroyuki Kondo, Takaaki Hayashi
Rok vydání:	2019
Předmět:	0303 health sciences medicine.medical_specialty Retinal Disorder lcsh:QH426-470 genetic structures business.industry 030305 genetics & heredity lcsh:Life Peripheral retina Biochemistry eye diseases lcsh:Genetics lcsh:QH501-531 03 medical and health sciences Congenital retinoschisis Ophthalmology Data Report Genetics Central vision Medicine business Molecular Biology Gene 030304 developmental biology
Zdroj:	Human Genome Variation, Vol 6, Iss 1, Pp 1-6 (2019) Human Genome Variation
ISSN:	2054-345X
DOI:	10.1038/s41439-018-0034-6
Popis:	X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families. We present clinical features of these patients in relation to the associated mutations.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d019782e5165c55a55cc3f821519c4c6 https://doi.org/10.1038/s41439-018-0034-6 Zobrazit plný text záznamu Full text from SpringerLink