Literature DB >> 15479196

Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.

V Migliosi, E Flex, V Guida, A Martini, N Giarbini, T Markova, I Torrente, B Dallapiccola.   

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Year:  2004        PMID： 15479196     DOI： 10.1111/j.1399-0004.2004.00318.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Crystal structure of ED-Eya2: insight into dual roles as a protein tyrosine phosphatase and a transcription factor.

Authors:  Suk-Kyeong Jung; Dae Gwin Jeong; Sang J Chung; Jae Hoon Kim; Byoung Chul Park; Nicholas K Tonks; Seong Eon Ryu; Seung Jun Kim
Journal:  FASEB J       Date:  2009-10-26       Impact factor: 5.191

2.  A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

Authors:  Yan-Gong Wang; Shu-Ping Sun; Yi-Ling Qiu; Qing-He Xing; Wei Lu
Journal:  BMC Med Genet       Date:  2018-08-07       Impact factor: 2.103
  2 in total

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