Mutation Details for c.273+4A>G
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cDNA Name
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c.273+4A>G
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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405+4A->G
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Other Details
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This possible splice mutation was identified by DGGE and direct sequencing.
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Contributors
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Costes B,
Auloge L,
Ghanem N,
Goossens M
1993-03-22
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Institute
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Laboratoire de Biochimie
Creteil, France
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Submitted Phenotype Details
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The 405+4A->G mutation was found in a 19 year-old female CF patient diagnosed before the age of 8 with PS, positive sweat chloride and mild pulmonary symptoms and nasal polyposis. (pers. corr. Girodon)
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Reference
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Ghanem 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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