Mutation Details for c.2490+1G>A
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cDNA Name
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c.2490+1G>A
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Exon or Intron
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intron 14
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Legacy Exon or Intron
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intron 13
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2622+1G->A
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Other Details
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A nucleotide change, G->A at position 2622+1 was detected in exon 13 by DGGE and direct sequencing. The patient is 2 years old and pancreatic sufficient.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Mercier B,
Audrezet MP,
Guillermit H
1992-05-14
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Audrézet et al. 1993a
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