Mutation Details for c.43delC

cDNA Name c.43delC 
Protein Name p.Leu15PhefsX10 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name 175delC 
Other Details This mutation was identified by DGGE and direct sequencing. The patient is an infertile male with CBAVD. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP< Raguenes O, Guillermit H, Mercier B   1993-06-29
Institute Center de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a Russian CF patient. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#56) 

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The Database was last updated at Apr 25, 2011