Mutation Details for c.2988+41delA
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cDNA Name
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c.2988+41delA
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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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3120+41delA
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Other Details
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Contributors
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Girodon et al.
2003-05-30
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,France
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Submitted Phenotype Details
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The mutation was found in a 47y F, diagnosed at 44y, PS, with moderate lung disease, disseminated bronchiectasis likely not linked to CFTR mutations; 3120+41delA considered as a polymorphism. (pers. corr. Girodon)
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Reference
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Girodon et al. 2003
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