Mutation Details for c.1482_1483delTT
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cDNA Name
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c.1482_1483delTT
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Protein Name
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p.Ser495LeufsX8
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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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1612delTT
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Other Details
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The identification of one new CFTR mutation detected by DGGE screening and automatic sequencing : this mutation is a 2 bp deletion from 1612 (1612 del TT) in exon 10. The mutation was observed in a French CF patient. On the other allele is the 3906 ins G recently reported and is suffering from a severe CF.
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Contributors
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Feldmann D,
Magnier C,
Chauve C,
Aymard P,
Hermelin B,
Fauroux B
1994-01-14
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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Reference
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Feldman et al. (NL#61)
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