Mutation Details for c.53+4A>T
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cDNA Name
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c.53+4A>T
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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+4A->T
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Other Details
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This mutation in intron 1 was detected by DGGE and was found in one CF patient with CBAVD: 185+4 a->T.
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Contributors
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Claustres M,
Culard JF,
Desgeorges M,
Razakatzara G
1993-09-06
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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185+4A->T was found in a CBAVD patient also carrying F508del in cis. (pers. corr. Claustres)
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Reference
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Culard 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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