Mutation Details for c.874G>A
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cDNA Name
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c.874G>A
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Protein Name
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p.Glu292Lys
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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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E292K
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Other Details
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The above mutation was detected by DGGE with chemical clamps and identified by direct sequencing. It was not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The French patient presents PI and moderate pulmonary disease.
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Contributors
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Bienvenu T,
Bousquet S,
Herbulot C,
Beldjord C,
Kaplan J C
1996-04-23
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Institute
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Laboratoire de Biochimie Génétique,
Groupe Hôspitalier Cochin,
France
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Submitted Phenotype Details
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One CF patient, PI, moderate lung disease (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#68)
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