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cDNA Name
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c.442A>T
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Protein Name
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p.Ile148Phe
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Exon or Intron
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exon 4
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Other Details
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The patient is compound heterozygote, the second mutation is F508del; the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients
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Contributors and Institutes
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| I148F | - | Medical University Graz, Institute of Human Genetics |
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Submitted Phenotype Details
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The female patient was born 1961, parents are not available for analysis. Since childhood recurrent bronchopulmonary infections; with the age of 9 and 22 years tuberculosis required hospital stay for several months; recurrent pulmonary problems; in the last years she has been treated for chronic obstructive pulmonary disease (COPD) and she received several times a year antibiotic therapy with varying success. Sweat test was positive, PS
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Reference
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