Mutation Spectrum in the Rep-1 Gene of Japanese Choroideremia Patients

Autor:	Mikirou Mori, Osamu Okajima, Masaru Yoshii, Nobuko Tagami, Keiko Fujiki, Misako Takeda, Mutsuko Hayakawa, Seiji Hayasaka, Atsushi Kanai, Norio Ohba, Akira Murakami, Yukihiko Mashima, Yasushi Isashiki, Nao Kohno, Yoshihiro Hotta, Masayuki Matsumoto
Rok vydání:	2007
Předmět:	Genetics business.industry Retinitis pigmentosa Mutation (genetic algorithm) Nonsense mutation Medicine sense organs biochemical phenomena metabolism and nutrition business medicine.disease Gene eye diseases Choroideremia
Zdroj:	Retinal Degenerative Diseases and Experimental Therapy ISBN: 9780306461934
DOI:	10.1007/978-0-585-33172-0_15
Popis:	Background: Although the mutations of the REP-1 gene were reported in the Caucasian patients with choroideremia, no report was found in non-Caucasian patient except our previous case report. We performed multi-institutional study of the REP-1 gene in Japanese patients with choroideremia.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::b87a34549ad90a81104242d60bac8741 https://doi.org/10.1007/978-0-585-33172-0_15 Zobrazit plný text záznamu