Mutation Details for c.38C>T

cDNA Name c.38C>T 
Protein Name p.Ser13Phe 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name S13F 
Other Details This mutation was detected by DGGE and identified by direct sequencing in a CF patient of Sardinian origin. 
Contributors Cao A, Leoni G, Rosatelli M   1996-07-03
Institute Istituto di Clinica e Biologia dell'Eta Evolutiva 
Submitted Phenotype Details One patient (11,female) diagnosed at 9 years, PS, no lung involvment, sweat chloride 120 mEq/l. Severe mental retardation associated. T338I on the other allele. (Leoni et all 1997) 
Reference Cao et al. (NL#69) 

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The Database was last updated at Apr 25, 2011