Mutation Details for c.4004T>C
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cDNA Name
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c.4004T>C
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Protein Name
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p.Leu1335Pro
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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L1335P
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Other Details
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The mutation was detected by heteroduplex analysis and direct sequencing in two CF patients carrying [delta]F508 on their other CF chromosome.
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C
1997-08-12
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Institute
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The Hospital for Sick Children,
Toronto, Canada
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Submitted Phenotype Details
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The female CF patient is PS with sweat chloride >80 mmol/l. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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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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