Mutation Details for c.-34C>T

cDNA Name c.-34C>T 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name 99C/T 
Other Details This mutation was detected by DGGE analysis and identified by automatic sequencing. It was found once out of 50 chromosomes of children with Disseminated Bronchiectasis (DBE). This patient had a negative sweat test. The mutation was never observed in 104 chromosomes of Chronic Obstructive Pulmonary Disease (COPD) patients, in 46 chromosomes of adult DBE patients, in 106 chromosomes of CF patients, and in 600 control chromosomes. 
Contributors Bombieri C, Belpinati F, Castellani C, Pignatti P F   2000-05-01
Institute Section of Biology and Genetics DMIBG, University of Verona, Italy 
Submitted Phenotype Details The 15 years old male is PS, with normal sweat chloride and has DBE. (pers. corr. Bombieri) 
Reference Bombieri et al. 2000 

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The Database was last updated at Apr 25, 2011