Literature DB >> 17101001

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.

B Drera, N Zoppi, S Barlati, M Colombi.   

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Year:  2006        PMID： 17101001     DOI： 10.1111/j.1399-0004.2006.00713.x

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


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  2 in total

1.  A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.

Authors:  Xiaoquan Zhu; Fengchao Wang; Yanyang Zhao; Peng Yang; Jun Chen; Hanzi Sun; Lei Liu; Wenjun Li; Lin Pan; Yanru Guo; Zhaohui Kou; Yu Zhang; Cheng Zhou; Jiang He; Xue Zhang; Jianxin Li; Weitian Han; Jian Li; Guanghui Liu; Shaorong Gao; Ze Yang
Journal:  PLoS Genet       Date:  2014-10-23       Impact factor: 5.917

Review 2.  Sheldon-Hall syndrome.

Authors:  Reha M Toydemir; Michael J Bamshad
Journal:  Orphanet J Rare Dis       Date:  2009-03-23       Impact factor: 4.123
  2 in total

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