Mutation Details for c.744-6_744-3delTTAC
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cDNA Name
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c.744-6_744-3delTTAC
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Exon or Intron
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intron 6
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Other Details
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The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. The mutation was not found on 100 non-CF chromosomes.
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Contributors and Institutes
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| Prasad R | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Singh M | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Kaur G | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. | | Sharma N | - | Postgraduate Institute of Medical Education and Research, Chandigarh, India. |
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Submitted Phenotype Details
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He was 8 years old, PS, with mild cough and failure to thrive. Sweat chloride was 61 mEq/L. Chest x-ray showed hyperinflation (pers. corr. Prasad).
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Reference
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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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