Mutation Details for c.1679+11A>G
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cDNA Name
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c.1679+11A>G
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1811+11A->G
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Other Details
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The 1811+11 A->G was detected in the CFTR gene by DGGE and identified by direct sequencing. This mutation has been found after an ultrasound diagnosis of echogenic bowel
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Contributors
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M. Baudis, M.C. Pasquet, M. Maréchaud, A. Kitzis
2003-03-28
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Institute
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Laboratoire de Génétique Cellulaire et Moléculaire CHU de Poitiers France
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Submitted Phenotype Details
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This mutation has been found after an ultrasound diagnosis of echogenic bowel
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Reference
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personal correspondence Kitzis, 2003
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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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