Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third most common cystic fibrosis (CF) mutation, with a worldwide frequency of 3.1% among CF chromosomes. R...

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Veröffentlicht in:American journal of human genetics 1992-08, Vol.51 (2), p.245-250
Hauptverfasser: Hamosh, A, King, T M, Rosenstein, B J, Corey, M, Levison, H, Durie, P, Tsui, L C, McIntosh, I, Keston, M, Brock, D J
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Sprache:eng
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