Mutation Details for c.165-10T>G
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cDNA Name
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c.165-10T>G
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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297-10T->G
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Other Details
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This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix.
It was found in one CF patient with severe lung disease, pancreatic insufficiency and sweat chlorides of 65. Patient has 296+9A->T on the other chromosome.
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Contributors
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Zielenski J,
Aznarez I,
Tsui L-C
Rawashdeh M,
Khateeb
1999-06-07
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Institute
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The Hospital for Sick Children
Toronto, Canada
Jordan University of Science &
Technology
Aman, Jordan
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Submitted Phenotype Details
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The mutation was found in a PI patient, with severe lung disease and sweat chloride 65 mmol/l, also carrying 296+9A->T. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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