Literature DB >> 15491396

EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome.

Taku Uno1, Masako Sawada, Toshiaki Kurotaki, Noriaki Shinomiya.   

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Year:  2004        PMID： 15491396     DOI： 10.1111/j.1442-200x.2004.01935.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  3 in total

1.  A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

Authors:  Guomin Li; Qian Shen; Li Sun; Haimei Liu; Yu An; Hong Xu
Journal:  Intractable Rare Dis Res       Date:  2018-02

2.  EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.

Authors:  Michiyo Okada; Rika Fujimaru; Noriko Morimoto; Kenichi Satomura; Yoshikazu Kaku; Kazuo Tsuzuki; Kandai Nozu; Torayuki Okuyama; Kazumoto Iijima
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714

3.  Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

Authors:  Hui Ram Kim; Mee Hyun Song; Min-A Kim; Ye-Ri Kim; Kyu-Yup Lee; Jong Kyung Sonn; Jaetae Lee; Jae Young Choi; Un-Kyung Kim
Journal:  Mol Biol Rep       Date:  2014-03-04       Impact factor: 2.316
  3 in total

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