Mutation Details for c.53+45A>G
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cDNA Name
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c.53+45A>G
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Exon or Intron
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intron 1
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Legacy Exon or Intron
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intron 1
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185+45A->G
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Other Details
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This sequence variation was detected by DGGE and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested.
This variation was found in a CBAVD patient. His other CF mutation is unknown.
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Contributors
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Bienvenu T,
Zamfir O,
Bousquet S,
Beldjord C
1999-05-15
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Institute
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Laboratoire de Biochimie Génétique,
Groupe Hôspitalier Cochin, France
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Submitted Phenotype Details
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Reference
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Bienvenu et al. 1999
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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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