Mutation Details for c.3618_3619delAG
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cDNA Name
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c.3618_3619delAG
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Protein Name
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p.Gly1208ProfsX56
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3750delAG
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Other Details
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The deletion was found once while screening exon 19 by DGGE and DNA sequencing out of 28 CF Belgium patients.
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Contributors
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Quere I,
Audrezet MP,
Mercier B,
Ferec C,
Lissens W,
Bonduelle M,
Liebaers I
1992-02-08
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was found in a Belgian CF patient. (pers.corr. Ferec)
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Reference
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Mercier et al. 1993a
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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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