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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Hiroyuki Kondo, Kazuma Oku, Satoshi Katagiri, Takaaki Hayashi, Tadashi Nakano, Akiko Iwata, Kazuki Kuniyoshi, Shunji Kusaka, Atsushi Hiyoshi, Eiichi Uchio, Mineo Kondo, Noriko Oishi, Shuhei Kameya, Atsushi Mizota, Nobuhisa Naoi, Shinji Ueno, Hiroko Terasaki, Takeshi Morimoto, Masayoshi Iwaki, Kazutoshi Yoshitake, Daisuke Iejima, Kaoru Fujinami, Kazushige Tsunoda, Kei Shinoda, Takeshi Iwata

ABSTRACT

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. More... »

PAGES

3

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0034-6

DOI

http://dx.doi.org/10.1038/s41439-018-0034-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111265167

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30652005


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41439-018-0034-6'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41439-018-0034-6'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41439-018-0034-6'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41439-018-0034-6'


 

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