Mutation Details for c.1359_1361delGTT
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cDNA Name
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c.1359_1361delGTT
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Protein Name
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p.Leu454del
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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[delta]L453
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Other Details
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[delta]L453 (or 454) was identified in an Austrian CF family from Tyrol. The male patient had severe CF and carrier [delta]L453 on his maternal and [delta]F508 on the paternal allele.
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Contributors
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Dörk T,
Skawran B,
Antonin W,
Ebhard M,
Stegh A,
Ellemunter H,
Schmidtke J,
Stuhrmann M
1995-12-07
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Institute
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Medizinische Hochschule
Hannover, Germany
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Submitted Phenotype Details
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One patient(male, died at 18y) diagnosed at 25months, sweat chloride 76mmol/l, PI, FEV1 21% with Pseudomonas Aeruginosa and Cepacia colonization, liver cirrhosis. DelF508 was on the other allele.
(Stuhrmann et all 1997 and pers corr. Doerk)
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Reference
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Dörk et al (NL#67)
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