Mutation Details for c.274-2A>C
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cDNA Name
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c.274-2A>C
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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406-2A->C
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Other Details
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A splicing mutation in intron 3 was detected by DGGE and identified by direct sequencing in a patient suffering from bronchectasia since childhood. This substitution creates a Mme site.
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Contributors
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Costes B,
Girodon E,
Ghanem N,
Goossens M
1993-11-26
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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406-2A->C was found in a male patient who died at 53y, was diagnosed at 8y, is PS, has moderate lung disease with disseminated bronchiectasis;pulmonary epidermoid carcinoma. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#60)
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