Mutation Details for c.393delT
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cDNA Name
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c.393delT
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Protein Name
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p.Phe131LeufsX3
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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525delT
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Other Details
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We would like to report the new mutation (525 del T) detected in one Yugoslav CF family. The mutation was detected in a CF patient (N1303K/525delT) and in the mother of the affected child (525 del T/N). The methods applied for detecting and defining the 525delT mutation were: DGGE of exon 4 of CFTR gene and subsequent automatic sequencing.
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Contributors
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Radojkovic D,
Kusic J,
Cuppens H,
Jaspers M
1998-05-06
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Institute
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Institute of Molecular Genetics and Genetic Engineering
Belgrade, Yugoslavia
Center for Human Genetics
Leuven, Belgium
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Submitted Phenotype Details
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The mutation was found in a CF female patient. She was admitted to hospital at the age of two months, due to frequent bulky stools and hipotrophy. Sweat test was 119umol/L. From the age of 3yr, pulmonary symptoms are dominant. Chronical colonisation with P. Aeruginosa from the age of 9yr. Presently (age 16) in a good condition. (Updated on November 4,2008)
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Reference
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Radojkovic 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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