Mutation Details for c.579+3A>T
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cDNA Name
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c.579+3A>T
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Exon or Intron
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intron 5
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Legacy Exon or Intron
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intron 5
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711+3A->T
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Other Details
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The above mutation was detected by DGGE and identified by direct sequencing. 711+3A->T was found in a Spanish woman with PS, carrying R334W in the other chromosome, and with 2 brothers died of CF. Screening in 132 CF patients was negative.
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Contributors
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Casals T,
Ramos M D,
Gimenez J,
Nunes V,
Estivill X
1995-08-03
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Institute
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IRO,
Spain
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Submitted Phenotype Details
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The mutation was identified in a 23 years old female patient diagnosed at 19, who is PS, has FEV193%, chronic cough and bronchiectasis, and sweat chloride 102 mmol/l. She carries R334W on the other allele. (pers. corr. Casals and Casals et al. 1997)
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Reference
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Casasl et al. (NL#67)
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