Mutation Details for c.1993A>T
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cDNA Name
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c.1993A>T
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Protein Name
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p.Thr665Ser
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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T665S
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Other Details
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A novel mutation was identified by DGGE and direct sequencing. This mutation was identified on a CF chromosome of Tunisian origin. The mutation was found once while screning 57 non[delta]F508 CF chromosomes.
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Contributors
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Ferec C,
Mercier B,
Verlingue C
1994-10-06
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
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Submitted Phenotype Details
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The mutation was identified in a Tunisian CF patient. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#63)
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