Mutation Details for c.3874-4A>G
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cDNA Name
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c.3874-4A>G
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4006-4A->G
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Other Details
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The above mutation was found by DGGE with chemical clamps and identified by DNA sequencing.
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Contributors
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Chomel J C,
Baudis M,
Kitzis A
1996-01-19
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Institute
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Laboratoire de Génétique Cellulaire et Moléculaire,
CHU de Poitiers,
France
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Submitted Phenotype Details
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The mutation was identified in a 13 years old female, diagnosed with CF at 3 years of age. The other mutation was not identified. (pers. corr. Kitzis)
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Reference
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Chomel et al. (NL#68)
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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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