Mutation Details for c.1059A>C
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cDNA Name
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c.1059A>C
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Protein Name
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p.Gln353His
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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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Q353H
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Other Details
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This mutation was found by DGGE and direct sequencing in Caucasian patients.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP,
Mercier B
1995-03-22
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a suspected of CF patient.
(pers. corr. Ferec)
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Reference
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Ferec et al. (NL #65)
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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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