Mutation Details for c.-34C>T
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cDNA Name
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c.-34C>T
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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99C/T
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Other Details
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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.
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Contributors
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Bombieri C,
Belpinati F,
Castellani C,
Pignatti P F
2000-05-01
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Institute
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Section of Biology and Genetics
DMIBG, University of Verona,
Italy
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Submitted Phenotype Details
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The 15 years old male is PS, with normal sweat chloride and has DBE. (pers. corr. Bombieri)
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Reference
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Bombieri et al. 2000
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