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  • Disease severity associated with cystic fibrosis mutations deltaF508 and S549R[T-G] / Dawson, K.P.;Frossard, P.M.;Al Awar, B.
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Disease severity associated with cystic fibrosis mutations deltaF508 and S549R[T-G] / Dawson, K.P.;Frossard, P.M.;Al Awar, B.

Tác giả : Dawson, K.P.;Frossard, P.M.;Al Awar, B.

Năm xuất bản : 2001

Chủ đề : 1. Amino Acid Substitution. 2. Child, Preschool. 3. Chlorides. 4. Cystic Fibrosis. 5. Cystic Fibrosis Transmembrane Conductance Regulator. 6. Homozygot. 7. Mutation. 8. Phenotype. 9. Severity of Illness Index.

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975-980 We compared the clinical severity associated with the two cystic fibrosis [CF] mutations S549R[T[R]G] and deltaF508. Clinical and biochemical variables of CF were compared in two age- and sex-matched groups of CF children in the United Arab Emirates [UAE]. The clinical severity of mutations S549R[T[R]G] and delta F508 showed comparable patterns, with very low Shwachman scores and high sweat chloride levels. We conclude that patients homozygous for the CF mutations deltaF508 and S549R[T[R]G] have a severe clinical presentation and illness and are indistinguishable on clinical grounds
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https://iris.who.int/handle/10665/119115