Mutation Details for c.54-13C>G
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cDNA Name
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c.54-13C>G
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Exon or Intron
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intron 1
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Legacy Exon or Intron
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intron 1
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186-13C->G
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Other Details
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The CF child is 13 years old, PS, with nasal polyposis as the main symptom. He carries the [delta]F508 on the other allele. We have not observed this nucleotide change in 200 normal chromosomes so far tested.
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Contributors
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Ferec C,
Quere I,
Audrezt MP,
Verlingue C,
Guillermit Hm
Mercier B
1992-11-06
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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 identified in a female French CF patient, who is PS, has mild lung disease and carries DeltaF508 on the other allele.
(pers. corr. Ferec)
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Reference
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Férec et al. (NL#50)
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