Work

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome

Year: 2017

Type: article

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2017.08.001

Authors: Keita Nakanishi, Kandai Nozu, Ryugo Hiramoto, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Tomoko Horinouchi, Takeshi Ninchoji, Hiroshi Kaito, Naoya Morisada, Shingo Ishimori, Koichi Nakanishi, Ichiro Morioka, Hiroyuki Awano, Masafumi Matsuo, Kazumoto Iijima

Institutions: University of the Ryukyus, Kobe University, Matsudo City Hospital, Kobe Gakuin University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Ministry of Education, Culture, Sports, Science and Technology, Ministry of Health, Labour and Welfare, Japan Society for the Promotion of Science

Awards: G3138647734, G4069271212, G5722508873, The onset mechanisms for inherited salt-losing tubulopathies

OpenAlex ID: W2744593391

FWCI: 1.699

Cites: 11

Cited by: 17

Related to: 10