Mutation Details for c.1433_1434delCA
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cDNA Name
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c.1433_1434delCA
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Protein Name
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p.Ser478X
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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1565 del CA
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Other Details
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The mutation was identified by DGGE and direct sequencing
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-18
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Institute
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Lab. Genetica Molecolare Dip Pediatria, Padova,Italy
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Submitted Phenotype Details
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The Italian CF patient (F 12y) carries deltaF508 on the other allele; no clinical data available.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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