Mutation Details for c.3468+5G>A
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cDNA Name
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c.3468+5G>A
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Exon or Intron
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intron 21
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Legacy Exon or Intron
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intron 18
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3600+5G->A
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Other Details
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The above 2 mutations were detected by DGGE using chemical clamps and identified by direct sequencing. 3600+5G->A has been found only once among 50 non-[delta]F508 CF chromosome and 50 non-CF chromosomes, whereas 3394A/G, among 100 non-[delta]F508 CF chromosome and 100 non-CF chromosomes.
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Contributors
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Bienvenu T,
Bousquet S,
Beldjord C,
Kaplan J C
1995-06-08
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Institute
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Groupe Hôspitalier Cochin,
Paris
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Submitted Phenotype Details
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The 8 years old female patient was diagnosed at birth with meconium ileus. She is PI and has sweat chloride 110 mmol/l. The other 2 mutations are V920M and deltaF508. (pers.corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#66)
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