Mutation Details for c.1016_1018del
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cDNA Name
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c.1016_1018del
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Protein Name
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p.Thr339del
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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[delta]T339
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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), has severe lung disease and high sweat chloride, carries N1303K on the other allele.
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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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