Mutation Details for c.164+3_164+4insT
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cDNA Name
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c.164+3_164+4insT
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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296+3insT
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Other Details
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The mutation was found by SSCA and identified by direct DNA sequencing in two Spanish CF patients, both carriers of the [delta]F508 on the other CF chromosome. One of them, a women 27 years old, was diagnosed at 14, high sweat chloride (93), pancreatic sufficiency and moderate lung disease. She had a CF brother who died at 6 months.
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Contributors
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Casals T,
Ramos M D,
Jimenez J,
Nunes V,
Estivill X
1998-12-31
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Institute
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IRO
Barcelona,
Spain
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Submitted Phenotype Details
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The mutation was identified in 2 CF patients. One is a 27 years old female, diagnosed at 14 years of age, PS with sweat chloride 93 mmol/l and moderate respiratory symptoms. She also carries deltaF508 (pers. corr. Casals)
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Reference
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Casals et al. 1998
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