Mutation Details for c.4251delA
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cDNA Name
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c.4251delA
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Protein Name
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p.Glu1418ArgfsX14
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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4382delA
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Other Details
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This new mutation was detected by SSCP in exon 24. This mutation destroys a MboII restriction site and results in a stopp codon (UGA) 15 codons downstream. It has been found in one CF patient from Southern France.
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Contributors
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Claustres M,
Desgeorges M,
Kjellberg P
1992-07-31
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Phenotype Information
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CFTR2
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Reference
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Claustres et al. 1993
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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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