Mutation Details for c.3002_3003delTG
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cDNA Name
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c.3002_3003delTG
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Protein Name
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p.Val1001AspfsX45
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3132delTG
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Other Details
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This mutation was found by DGGE anaylsis, followed by sequencing in two patients. It was compunded with [delta]F508 and with an unknown mutation, respectively, in a total of 225 CF chromosomes from a North East Italian CF cohort.
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Contributors
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Marigo C,
Bombieri C,
Pignatti PF,
Bonizatto A,
Nicolis E,
Cabrini G
1994-01-21
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Institute
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Istituto di Scienze Biologiche
Verona, Italy
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Submitted Phenotype Details
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The mutation was identified in a CF patient (female, 25 years old) diagnosed at 1 month of age. She is PI, has FEV1 81% and sweat chloride 129 mmol/l. She has DIOS. She carries deltaF508 on the other allele. (pers. corr. Bombieri)
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Reference
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Marigo et al. (NL#61)
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