Mutation Details for c.579+3A>G
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cDNA Name
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c.579+3A>G
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Exon or Intron
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intron 5
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Legacy Exon or Intron
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intron 5
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711+3A->G
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Other Details
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This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome.
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Contributors
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Petreska L,
Koceva S,
Efremov GD
1993-11-05
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Institute
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Macedonian Academy of Sciences and Arts
Skopje, Republic of Macedonia
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Phenotype Information
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CFTR2
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Reference
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Petreska et al. 1994
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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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