Mutation Details for c.1585-9T>A
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cDNA Name
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c.1585-9T>A
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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1717-9T->A
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Other Details
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The mutation was found in 1 year old CF patient of Bosnian nationality. Patient is heterozygous for [delta]F508and presented with sweat chloride 74,6 mM. This mutation was detected by SSCP and confirmed by direct sequencing.
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Contributors
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Vouk K,
Komel R
1999-05-10
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Institute
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Medical Centre for Molecular Biology
Institute of Biochemistry, Faculty of Medicine
Vrazov, Slovenia
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Submitted Phenotype Details
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Reference
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Vouk & Komel 1999
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