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cDNA Name
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c.1567G>T
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Protein Name
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p.Ala523Ser
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Exon or Intron
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exon 11
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Other Details
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This aminoacid change was found by DGGE and identified by sequencing in a spanish patient . No other mutation was detected
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Contributors and Institutes
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| Alonso MJ | - | University of Valladolid-IBGM | | Izquierdo I | - | University of Valladolid-IBGM | | Teleria J | - | University of Valladolid-IBGM | | Fernandez I | - | University of Valladolid-IBGM |
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Submitted Phenotype Details
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The patient (male, 13y)has steatorrea and borderline sweat test.No other mutation was detected.
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Reference
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