Mutation Details for c.2361_2362ins8
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cDNA Name
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c.2361_2362ins8
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Protein Name
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p.Thr788fsX?
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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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2493ins8
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Other Details
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This frameshift mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CF patient from Southern France. He carried the [delta]F508 mutation on the other chromosome.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2001-05-09
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Institute
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IURC
Montpellier
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Submitted Phenotype Details
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The French CF patient (male) carried deltaF508 on the other allele. He died at 11 years of age. (pers. corr. Claustres)
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Reference
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Claustres et al. 2001
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