Literature DB >> 15286168

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

R Kan1, S R F Twigg, J Berg, L Wang, F Jin, A O M Wilkie.   

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Year:  2004        PMID： 15286168      PMCID： PMC1735875          DOI： 10.1136/jmg.2004.018507

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  1 in total

1.  Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Authors:  Aimee L Fenwick; Jacqueline A C Goos; Julia Rankin; Helen Lord; Tracy Lester; A Jeannette M Hoogeboom; Ans M W van den Ouweland; Steven A Wall; Irene M J Mathijssen; Andrew O M Wilkie
Journal:  BMC Med Genet       Date:  2014-08-31       Impact factor: 2.103
  1 in total

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