Mutation Details for c.1574_1590delAACTAGAAGAGGACATC
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cDNA Name
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c.1574_1590delAACTAGAAGAGGACATC
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Protein Name
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p.Gln525LeufsX37
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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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1706del17
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Other Details
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Note:test This novel mutation resulting from a 17 base-pair deletion at exon 10-intron 10 boundary including the last 11 bp of exon 10 and the first bp of the intron 10, was detected in a single patient with a severe phenotype who was compound heterozygous for this mutation and [delta]F508.
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Contributors
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Leoni GB,
Rosatelli MC,
Cossu G,
Pischedda C,
De Virgiliis S,
Cao A
1993-01-01
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Institute
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Universita Degli Studi di Cagliari, Italy
Istituto di Clinica e Biologia Dell'eta Evolutiva
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Submitted Phenotype Details
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The mutation was identified in 2 male patients, 24 and 8 years old, diagnosed at 9 and 2 years of age respectively. Both are PI, with high sweat chloride and severe lung disease. DeltaF508 and G542X respectively on the other allele.(pers. corr. Rosatelli)
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Reference
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Leoni et al. 1993
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