Mutation Details for c.1584+13G>T
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cDNA Name
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c.1584+13G>T
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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1716+13G/T
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Other Details
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The 1716+13 G->T polymorphism was detected by SSCP analysis and further confirmed by direct sequencing in both directions. No restriction enzyme site is affected. This polymorphism is rare in the Spanish CF population since it was detected in 1 out of 50 CF chromosomes.
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Contributors
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Chillon M,
Nunes V,
Casals T
Estivill X
1994-01-08
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Institute
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Institut de Recerca Oncologica
Barcelona, Spain
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Submitted Phenotype Details
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Reference
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Chillón et al. (NL#61)
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