Mutation Details for c.3468+2_3468+3insT
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cDNA Name
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c.3468+2_3468+3insT
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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+2insT
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Other Details
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The mutation was detected by heteroduplex analysis in a 1-year old female Polish patient with high sweat chloride (120 meq/l), pancreatic insufficiency, and mild lung disease. Her other CF mutation was unknown.
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Contributors
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Zielenski J,
Aznarez I,
Tsui L-C,
Bal J,
Mazurczak T
1997-11-12
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Institute for Mother and Child,
Warsaw, Poland
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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