cDNA Name
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c.3963+2t>A
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Exon or Intron
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intron 24
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Other Details
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This change has been detected by DGGE analysis and direct sequencing in one Spanish CF chromosome
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Contributors and Institutes
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MD. Ramos | - | CGMM-IDIBELL. Barcelona. Spain | J. Gimenez | - | CGMM-IDIBELL. Barcelona. Spain | T. Casals | - | CGMM-IDIBELL. Barcelona. Spain |
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Submitted Phenotype Details
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The Sapnish patient (male, 8y, genotype [F508del] + [4095+2T>A]) was diagnosed at 2y. He is Pancreatic insufficient and positive for lung colonization Ps. Aeruginosa. (pers. corr. T. Casals)
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Reference
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