Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.
Bienvenu
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Beldjord
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Kaplan
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Hubert
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Dusser
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D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017809:Fatal Outcome; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator