Mutation Details for c.1393-1G>A
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cDNA Name
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c.1393-1G>A
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Exon or Intron
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intron 10
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Legacy Exon or Intron
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intron 9
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1525-1G->A
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Other Details
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The CF patient who inherited this mutation from her Afghanian father is severely affected and carries an yet unidentified mutation on her maternal CF chromosome. We have no more chromosomes of Indoiranian origin and did not detect this mutaion on 10 Turkish and 52 German CF chromosomes.
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Contributors
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Dork T,
Tummler B
1991-02-07
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Institute
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Medizinische Hochshcule Hannover
Hannova, Germany
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Phenotype Information
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CFTR2
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Reference
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Dörk et al. 1993a
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