Mutation Details for c.1469_1470delTC
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cDNA Name
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c.1469_1470delTC
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Protein Name
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p.Phe490LeufsX13
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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1601delTC
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Other Details
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The 1601delTC mutation was detected by nondenaturing gel electrophoresis analysis and direct sequencing in an Italian CF patient with PI, carrying [delta]F508 on the other chromosome.
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Contributors
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Leoni G B,
Rosatelli M C,
Cao A
1996-03-22
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Institute
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Universita Degli Studi di Cagliari, Italy
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Submitted Phenotype Details
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The male CF patient had classical CF phenotype, being PI, with moderate lung disease (Pseudomonas colonization and recurrent respiratory infections) and sweat chloride 130 mmol/l. (pers. corr. Rosatelli)
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Reference
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Leoni et al. (NL#68)
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