Mutation Details for c.3964-28G>A

cDNA Name c.3964-28G>A 
Exon or Intron intron 24 
Legacy Exon or Intron intron 21 
Legacy Name 4096-28G->A 
Other Details The sequence alteration above was found by DGGE and identified by direct sequencing in Libanese families. It creates a new EcoRV site. 
Contributors Claustres M, Guittard C, Desgorges M, Carles S   1996-04-30
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details 4096-28G->A was found in a 4m, F Lebanese CF patient diagnosed at 2m for hypotrophia, with severe lung disease and sweat chloride 52 mmol/l. (pers. corr. Claustres) 
Reference Claustres et al. (NL#68) 

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The Database was last updated at Apr 25, 2011