Mutation Details for c.1117-30_1117-29delTA
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cDNA Name
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c.1117-30_1117-29delTA
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Exon or Intron
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intron 8
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Legacy Exon or Intron
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intron 7
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1249-30delAT
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Other Details
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The mutation was detected by heteroduplex analysis. It was found in one Caucasian
CF patient. The second mutation: [delta]F508.
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Contributors
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Zielenski J,
Markiewicz D,
Tsui L-C,
Onay T,
Kirdar B
1996-10-07
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Bogazici University,
Istanbul, Turkey
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#69)
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