Mutation Details for c.1753G>T
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cDNA Name
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c.1753G>T
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Protein Name
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p.Glu585X
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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E585X
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Other Details
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This nonsense mutation was found through DGGE analysis and direct sequencing. The mutation has been detected in 4 out of 95 CF non-[delta]F508 chromosomes and it was not found in 42 normal chromosomes.
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Contributors
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Ferrari M,
Cremonesi L,
Magnani C
Romeo G,
Ronchetto P,
Telleria JJ,
Devoto M
Goossens M,
Fanen P
1990-03-15
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Institute
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Milan, Italy
Genova, Italy
Creteil, France
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Phenotype Information
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CFTR2
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Reference
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Cremonesi et al. (NL #33)
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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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