The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a t...
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients
About this item
Full title
Author / Creator
Zhao, Yang , Hosono, Katsuhiro , Suto, Kimiko , Ishigami, Chie , Arai, Yuuki , Hikoya, Akiko , Hirami, Yasuhiko , Ohtsubo, Masafumi , Ueno, Shinji , Terasaki, Hiroko , Sato, Miho , Nakanishi, Hiroshi , Endo, Shiori , Mizuta, Kunihiro , Mineta, Hiroyuki , Kondo, Mineo , Takahashi, Masayo , Minoshima, Shinsei and Hotta, Yoshihiro
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. The USH2A gene, which accounts for approximately 74-90% of Usher syndrome type 2 (USH2) cases, is also one of the major autosomal recessive RP (arRP) causative genes among Caucasian populations. To identify disease-causing USH2A gene mutations in Japanese RP patients, all 73 exons...
Alternative Titles
Full title
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1611641785
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1611641785
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2014.65
