Mutation Details for c.2989-2A>T
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cDNA Name
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c.2989-2A>T
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Exon or Intron
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intron 18
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Legacy Exon or Intron
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intron 16
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3121-2A->T
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Other Details
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This mutation was identified by DGGE and direct sequencing in intron 16, A->T at nucloetide position 3121-2. This mutation was identified on one Italian CF chromosome.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Mercier B
1994-07-22
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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This mutation was identified in one Italian CF patient. (pers.corr. Ferec)
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Reference
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Férec et al. 1995
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