Mutation Details for c.3367+45T>C
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cDNA Name
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c.3367+45T>C
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Exon or Intron
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intron 20
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Legacy Exon or Intron
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intron 17b
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3499+45T/C
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Other Details
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This change has been detected by SSCP analysis of DNA amplified by PCR using following primers: 17bi-5s; 5'-TATGGACACTTCGTGCCTTC-3' and 17Bi-3; 5'ATAACCTATAGAATGCAGCA-3' (263 bp fragment).
The change has been found in one of 241 CF chromosomes tested and occured in a PS patient with unknown mutations.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1993-02-25
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Institute
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The Hospital For Sick Children
Toronto, ON, Canada
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Submitted Phenotype Details
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Reference
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Zielenski et al. (NL#53)
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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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