Mutation Details for c.3718-1G>A
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cDNA Name
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c.3718-1G>A
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3850-1G->A
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Other Details
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A splice mutation at the 3' end of intron 19, 3850 - 1 G->A, was observed on three chromosomes of French origin. These mutations have been found by DGGE and DNA sequencing.
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Contributors
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Audrezet MP,
Guillermit H,
Mercier B,
Quere I,
Verlingue C,
Ferec C
1992-02-03
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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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The mutation was found in a French CF patient (female, 16y) diagnosed at 6 m, carrying R347H on the other allele. (pers.corr. Ferec)
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Reference
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Audrézet et al. 1993a
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