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. 2009 Jan 21;17(6):733–740. doi: 10.1038/ejhg.2008.256

Table 1. MEK1 and MEK2 gene mutations identified and cohorts screened in this study.

Disorder and gene No. of cases Exon Nucleotide change Amino acid change Status
CFCS 33        
 MEK1 1 2 c.124C>T Leu42Phe De novo
  2 3 c.389A>G Tyr130Cys De novo
  1 3 c.388T>C Tyr130His De novo
           
 MEK2 1 2 c.170T>C Phe57Cys Controls
  1 2 c.186_197del Lys63_Glu66del De novo
           
NS 75a        
a

This cohort was screened for MEK1 exons 2, 3 and 6 and MEK2 exons 2, 3 and 7.