Mutation Details for c.1059A>C

cDNA Name c.1059A>C 
Protein Name p.Gln353His 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name Q353H 
Other Details This mutation was found by DGGE and direct sequencing in Caucasian patients. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet MP, Mercier B   1995-03-22
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a suspected of CF patient. (pers. corr. Ferec) 
Reference Ferec et al. (NL #65) 

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The Database was last updated at Apr 25, 2011