Mutation Details for c.422C>A
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cDNA Name
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c.422C>A
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Protein Name
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p.Ala141Asp
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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A141D
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Other Details
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The above mutation was identified by DGGE and sequencing (direct sequencing and sequencing after cloning) in an Algerian CF patient, with the other mutation being N1303K.
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Contributors
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Gouya L,
Pascaud O,
Elion J,
Denamur E
1995-02-15
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Institute
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Hôpitaux Robert Debre,
Paris, France
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Submitted Phenotype Details
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(Gouya et all 1997)
One algerian patient, female, 14 yrs old, diagnosed at 4, PS, has pulmonary colonisation with Pseudomonas aeruginosa and elevated sweat chloride.
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Reference
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Gouya et al. (NL#65)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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