Literature DB >> 23374571

Novel mutations in enhanced S-cone syndrome.

Kazuki Kuniyoshi1, Takaaki Hayashi, Hiroyuki Sakuramoto, Akira Nakao, Takashi Sato, Tomohiro Utsumi, Hiroshi Tsuneoka, Yoshikazu Shimomura.   

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Year:  2013        PMID： 23374571     DOI： 10.1016/j.ophtha.2012.08.032

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  3 in total

1.  Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.

Authors:  Vittoria Murro; Dario Pasquale Mucciolo; Andrea Sodi; Ilaria Passerini; Dario Giorgio; Gianni Virgili; Stanislao Rizzo
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-10-15       Impact factor: 3.117

2.  New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.

Authors:  Kazuki Kuniyoshi; Takaaki Hayashi; Hiroyuki Sakuramoto; Hiroshi Mishima; Hiroshi Tsuneoka; Kazushige Tsunoda; Takeshi Iwata; Yoshikazu Shimomura
Journal:  Jpn J Ophthalmol       Date:  2016-08-13       Impact factor: 2.447

3.  Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Authors:  Saoud Al-Khuzaei; Suzanne Broadgate; Stephanie Halford; Jasleen K Jolly; Morag Shanks; Penny Clouston; Susan M Downes
Journal:  Genes (Basel)       Date:  2020-10-29       Impact factor: 4.096
  3 in total

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